RNA-mediated toxicity in neurodegenerative disease

RNA-mediated toxicity in neurodegenerative disease. Veronique V. Belzil, Tania F. Gendron, Leonard Petrucelli. Molecular and Cellular Neuroscience, Available online 29 December 2012

Keywords: RNA processing, bidirectional transcription, RAN translation, RNA foci, neurodegenerative diseases, mouse models, non-coding repeat expansions.

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma is set to initiate VP20629 Phase II trial in the second half of 2013

ViroPharma: Strengthening Financial Profile & Pipeline Indicate Long-Term Upside, Ivan Deryugin, December 27, 2012

VP20629 is licensed from Intellect Neurosciences for the treatment of Friedreich’s Ataxia (FA), a rare neurodegenerative disease that affects about 1 in 50,000 people. Symptoms of FA include heart disease, speech problems, and gait disturbance. It is estimated that there are 6,000 FA patients here in the United States. Phase I data for VP20629 showed that the drug was well-tolerated at all dose levels, and ViroPharma is set to initiate a Phase II trial in the second half of 2013, and the company plans to file for orphan drug status once Phase II data is available

About VP 20629

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms . Hongqiao Li, Oleksandr Gakh, Douglas Y. Smith IV, Wasantha K Ranatunga and Grazia Isaya. J. Biol. Chem. jbc.M112.435263. First Published on December 26, 2012, doi:10.1074/jbc.M112.435263

Full text pdf

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly. Florent Colin , Alain Martelli , Martin Clémancey , Jean-Marc Latour , Serge Gambarelli , Laura Zeppieri , Catherine Birck , Adeline Page , Hélène Puccio , and Sandrine Ollagnier de Choudens. J. Am. Chem. Soc., Just Accepted Manuscript, DOI: 10.1021/ja308736e. Publication Date (Web): December 22, 2012

Keywords: Fe-S clusters, cysteine desulfurase complex (NFS1/ISD11), frataxin (FXN), Freidreich’s ataxia, cysteine desulfurization, aconitase (mACO2).

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes. Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association [2012, 120(10):579-585]

Keywords: genetic syndromes, diabetes mellitus (DM), frequency, treatment strategies, long-term complications, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).

USF researchers study medication that may help patients with incurable neuro-muscular disorder

USF researchers study medication that may help patients with incurable neuro-muscular disorder. abc ACTION NEWS; Thursday, December 20, 2012

“Currently there are no treatments or cures for Friedreich's Ataxia, but there's a possibility for a new drug that USF will be spearheading in the next month called EPI – 743"

Kinetics of the Triplex-Duplex Transition in DNA

Kinetics of the Triplex-Duplex Transition in DNA. Il-Buem Lee, Seok-Cheol Hong, Nam-Kyung Lee, Albert Johner; Biophysical Journal, Volume 103, Issue 12, 19 December 2012, Pages 2492-2501. http://dx.doi.org/10.1016/j.bpj.2012.10.029

Keywords: triplex folding/unfolding, metastable states.

Clarification: Conditions like FA involve triplex DNA structures that arise from tri nucleotide repeat expansions.

Heart Mitochondria: Receivers and Transmitters of Signals

Heart Mitochondria: Receivers and Transmitters of Signals. José Marín-García M.D.;
Mitochondria and Their Role in Cardiovascular Disease
2013, pp 157-181

Keywords: ATP, heart mitochondria, regulatory and signaling events, heart failure (HF), myocardial ischemia and reperfusion injury (IRI), hypoxia, oxidative stress (OS), hormonal and cytokine stimuli, interorganelle communication, hypertrophic growth, cell death, interrelated signaling pathways.

Alkylaminoquinones as Multifunctional Radical Quenchers

Alkylaminoquinones as Multifunctional Radical Quenchers. The Biodesign Institute Arizona State University.

Researchers at the Biodesign Institute of Arizona State University have developed novel
multifunctional radical quenchers (MRQs) for the treatment of mitochondrial disorders
Therapeutic candidates for mitochondrial diseases such as Friedreich’s ataxia

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer.ClinicalTrials.gov Identifier: NCT01751503; First received: December 11, 2012

Iva Hauptmannova, Royal National Orthopaedic Hospital NHS Trust, London, Middlesex, United Kingdom

Foot drop deformity is a life limiting condition characterized by loss of ankle dorsiflexion and eversion. Main condition leading to drop foot condition include irrecoverable muscle and nerve injuries, poliomyelitis, drug poisoning, strokes, cerebral palsy, Charcot - Marie - Tooth disease, meningomyelocele, club foot, Friedreich's ataxia and Leprosy.

High-performance neuroprosthetic control by an individual with tetraplegia

High-performance neuroprosthetic control by an individual with tetraplegia. Jennifer L Collinger PhD, Brian Wodlinger PhD, John E Downey BS, Wei Wang PhD, Elizabeth C Tyler-Kabara MD, Douglas J Weber PhD, Angus JC McMorland PhD, Meel Velliste PhD, Prof Michael L Boninger MD, Prof Andrew B Schwartz PhD. The Lancet, Early Online Publication, 17 December 2012, doi:10.1016/S0140-6736(12)61816-9


Paralyzed Woman's Mind Controls Robotic Arm. Written by Sarah Glynn, Medical News Today, Article Date: 17 Dec 2012.

A paralyzed woman struggling with Spinocerebellar degeneration has been able to control a robotic prosthetic hand using her thoughts.

The countdown for rare disease strategies is underway

The countdown for rare disease strategies is underway. The Lancet Neurology, Volume 12, Issue 1, Page 1, January 2013

Keywords: Rare Disease Day, national plans and strategies, European Organisation for Rare Diseases (EURODIS), to raise awareness, NEUROMICS project, registries, US National Association for Rare Disorders (NORD), Canadian Organization for Rare Disorders (CORD).

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation. Rajesh Verma, Mani Gupta. BMJ Case Reports 2012; doi:10.1136/bcr-2012-007496

Keywords: progressive gait ataxia, type 1 diabetes mellitus, babinski sign, Romberg's sign,deep tendon reflexes, Electrocardiogram, echocardiogram.

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN. CuRNA, Inc.; COLLARD, Joseph;
KHORKOVA SHERMAN, Olga. Patent application number WO2012/170771A1

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias.

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias. Alexandre MF, Rivaud-Péchoux S, Challe G, Durr A, Gaymard B.; Cerebellum. 2012 Dec 14. [Epub ahead of print].

Keywords: Saccadic eye movements, spino-cerebellar and Friedreich ataxia.

Mitochondria in Pediatric Cardiovascular Diseases

Mitochondria in Pediatric Cardiovascular Diseases. José Marín-García M.D.,
Mitochondria and Their Role in Cardiovascular Disease, 2013, pp 245-270

Keywords: cardiac mitochondrial respiratory enzymes, dilated and hypertrophic cardiomyopathy, mitochondrial cardiomyopathy, neurological disorders, cardioneuropathies.

The molecular biology of Friedreich ataxia

JBC Podcasts: The molecular biology of Friedreich ataxia.

Interview of ELENA HIDALGO, Principal Investigator, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain

PLAY

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients. María Sierra, Jon Infante,
José Berciano. The Cerebellum, December 2012.

Keeywords: substantia nigra (SN) hypoechogenicity, Friedreich’s ataxia (FRDA), restless syndrome (RLS).

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes].

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes]. Garcia-Estevez DA. Rev Neurol. 2012 Dec 16;55(12):765-7.

[Article in Spanish]

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans.. Alfonso Schiavi, Alessandro Torgovnick, Alison Kell, Evgenia Megalou, Natascha Castelein, Ilaria Guccini, Laura Marzocchella, Sara Gelino, Malene Hansen, Florence Malisan, Ivano Condo’, Roberto Bei, Shane Rea, Bart P. Braeckman, Nektarios Tavernarakis, Roberto Testi, Natascia Ventura. Experimental Gerontology, Available online 13 December 2012; http://dx.doi.org/10.1016/j.exger.2012.12.002,

Keywords: aging, nematode, mitochondria, frataxin, p53/cep-1, autophagy, fat, lipid metabolism, Beclin, Friedreich ataxia.

Common data elements for clinical research in Friedreich's ataxia

Common data elements for clinical research in Friedreich's ataxia. David R. Lynch MD PhD, Massimo Pandolfo MD, Jorg B. Schulz MD, Susan Perlman MD, Martin B. Delatycki MD PhD, R. Mark Payne MD, Robert Shaddy MD, Kenneth H. Fischbeck MD, Jennifer Farmer MS, Paul Kantor MD, Subha V. Raman MD, Lisa Hunegs MSW MPH, Joanne Odenkirchen MPH, Kristy Miller MPH, Petra Kaufmann MD MSC. Movement Disorders; Article first published online: 12 DEC 2012 | DOI: 10.1002/mds.25201.

Keywords: cerebellum, dorsal root ganglion, mitochondrion, clinical measure, NINDS Common Data Elements.

Fifth Annual Friedreich’s Ataxia Symposium at The Children's Hospital of Philadelphia

The Fifth Annual Friedreich’s Ataxia Symposium was held on Oct. 8, 2012

Topics and presentations from previous Friedreich's Ataxia symposia.

Proyecto: "Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

"Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

NUEVA CONVOCATORIA DE LA UNIVERSIDAD DE LA LAGUNA PARA LA CONTRATACIÓN DE PERSONAL LABORAL TEMPORAL, MEDIANTE EL SISTEMA DE CONCURSO PÚBLICO, CON CARGO A VARIOS PROYECTOS DE INVESTIGACIÓN (CONVOCATORIA PUBLICADA EN B.O.C. Nº 240, DE 10 DE DICIEMBRE D 11/12/2012

Proyecto 2 (nº referencia: 2012_83):

Título del proyecto: "Cerebelo y Cognición: deterioro neuropsicológico en la Ataxia de Friedreich y su relación con la degeneración cerebelosa en imágenes de RM".

Departamento de destino: Dpto. de Psicobiología y Metodología de las Ciencias del Comportamiento. (Facultad de Psicología).

Nº de plazas: 1 plaza

Titulación académica requerida: Licenciado/a en Psicología.

Duración del contrato: 9 meses (prorrogable según disponibilidad presupuestaria).

Extranuclear Localization of SIRT1 and PGC-1α: An Insight into Possible Roles in Diseases Associated with Mitochondrial Dysfunction

Extranuclear Localization of SIRT1 and PGC-1α: An Insight into Possible Roles in Diseases Associated with Mitochondrial Dysfunction . Aquilano, K.; Baldelli, S.; Pagliei, B.; R. Ciriolo, M.; Current Molecular Medicine, Volume 13, Number 1, January 2013 , pp. 140-154(15). DOI: http://dx.doi.org/10.2174/156652413804486241

Keywords: Biogenesis, cellular metabolism, cytoplasm, mitochondria, mitochondrial diseases, transcriptional regulation, SIRT1, PGC-1α, neurodegenerative disorders, myopathies,Type II diabetes mellitus.

Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases

Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases. Ruth Goldschmidt, Pablo M. Arce, Omar M. Khdour, Valérie C. Collin, Sriloy Dey, Jennifer Jaruvangsanti, David M. Fash, Sidney M. Hecht; Bioorganic & Medicinal Chemistry, Available online 12 December 2012. http://dx.doi.org/10.1016/j.bmc.2012.11.051.

Keywords: Idebenone, Friedreich's Ataxia, Adenosine triphosphate, Mitochondrial dysfunction, Antioxidants, Reactive oxygen species, Electron transport chain.

Expanded complexity of unstable repeat diseases

Expanded complexity of unstable repeat diseases. Urszula Polak, Elizabeth McIvor, Sharon Y.R. Dent, Robert D. Wells and Marek Napierala. Article first published online: 11 DEC 2012 | DOI: 10.1002/biof.1060

Keywords: Unstable repeat diseases (URDs), neurological diseases, repeat instability.

Leading international researchers awarded fellowships in UK

Leading international researchers awarded fellowships in UK 6 Dec 2012

The fifth round of Newton International Fellowships has been awarded jointly by the UK’s national research academies – the British Academy and the Royal Society. Fellowships have been awarded to 41 successful applicants who be investigating topics ranging from the socio-economic impact on women in Ghanaian oil communities to boosting visual short-term memory. They come from research institutes in over 20 different countries including Thailand, Mexico, China and Australia.

Dr Matija Popovic, Croatia - Understanding the molecular basis of frataxin turn-over – hosted by National Institute for Medical Research

Transcriptional Regulation by Nuclear Corepressors and PGC-1α: Implications for Mitochondrial Quality Control and Insulin Sensitivity

Transcriptional Regulation by Nuclear Corepressors and PGC-1α: Implications for Mitochondrial Quality Control and Insulin Sensitivity; Zhengtang Qi and Shuzhe Ding, PPAR Research Volume 2012 (2012), Article ID 348245, 12 pages doi:10.1155/2012/348245

OPEN ACCESS FULL TEXT PDF

Involvement of PGC-1α in the formation and maintenance of neuronal dendritic spines

Involvement of PGC-1α in the formation and maintenance of neuronal dendritic spines. Aiwu Cheng, Ruiqian Wan, Jenq-Lin Yang, Naomi Kamimura, Tae Gen Son, Xin Ouyang, Yongquan Luo, Eitan Okun & Mark P. Mattson. Nature Communications 3, Article number: 1250; doi:10.1038/ncomms2238

Keywords: synapses, neuronal circuits, peroxisome proliferator-activated receptor γ co-activator 1α, mitochondrial biogenesis, dendritic spines, hippocampal neurons, dendritic spines.

Dr Tremblay: Development of a potential therapy for Friedreich ataxia

Dr Tremblay: Development of a potential therapy for Friedreich ataxia (english)
04/12/2012 by Acaf Fondation Claude St-Jean

Iron binding activity is essential for the function of IscA in iron-sulphur cluster biogenesis

Iron binding activity is essential for the function of IscA in iron-sulphur cluster biogenesis; Aaron P. Landry , Zishuo Cheng and Huangen Ding; Dalton Trans., 2012, Accepted Manuscript. DOI: 10.1039/C2DT32000B

Keywords: Iron-sulphide cluster biogenesis, iron, sulphide, scaffold proteins, L-cysteine, cysteine desulfurases, IscA.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A; Journal of neurology : 2012 Nov 30

Keywords: Friedreich ataxia (FRDA), FXN gene, frataxin, point mutation, novel deletion in exon 5a (c.572delC).

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome Alexander S. Hebert, Kristin E. Dittenhafer-Reed, Wei Yu, Derek J. Bailey, Ebru Selin Selen, Melissa D. Boersma, Joshua J. Carson, Marco Tonelli, Allison J. Balloon, Alan J. Higbee, Michael S. Westphall, David J. Pagliarini, Tomas A. Prolla, Fariba Assadi-Porter, Sushmita Roy, John M. Denu, Joshua J. Coon;Molecular Cell, Available online 29 November 2012

The author explain that frataxin, and other proteins involved in iron homeostasis are well-represented as major targets of SIRT3 deacetylation, and even say the level and the exact place the interaction in the protein.

Synthesis and Biological Activities of N-(3-Carboxylpropyl)-5-amino-2-hydroxy-3-tridecyl-1,4-benzoquinone and Analogues.

Synthesis and Biological Activities of N-(3-Carboxylpropyl)-5-amino-2-hydroxy-3-tridecyl-1,4-benzoquinone and Analogues.Madathil MM, Khdour OM, Jaruvangsanti J, Hecht SM.; J Nat Prod. 2012 Nov 28. [Epub ahead of print]

KEYWORDS: benzoquinone, natural product, Friedreich's ataxia (FRDA) lymphocytes, oxidative stress, cytoprotection.

The mitochondrial protein frataxin is downregulated in hemodialysis patients.

The mitochondrial protein frataxin is downregulated in hemodialysis patients.Hasuike Y, Nagai T, Yorifuji S, Tanaka S, Matsumoto A, Yahiro M, Kaibe S, Kida A, Tokuyama M, Nagasawa Y, Otaki Y, Kuragano T, Nakanishi T.; Clin Exp Nephrol. 2012 Nov 23. [Epub ahead of print]

Keywords: frataxin, iron metabolism, heme, iron sulfur cluster synthesis, oxidative stress, uremia, polymorphonuclear leukocytes (PMNLs), hemodialysis (HD), frataxin/glyceraldehyde-3-phosphate dehydrogenase mRNA ratio, malondialdehyde, cytokine tumor necrosis factor-α, frataxin expression.

Novel Therapeutic Challenges in Cerebellar Diseases

Novel Therapeutic Challenges in Cerebellar Diseases. Dr. Antoni Matilla-Dueñas, Dr. Carme Serrano, Dr. Yerko Ivánovic, Dr. Ramiro Alvarez, Dr. Pilar Latorre, Dr. David Genís. Handbook of the Cerebellum and Cerebellar Disorders, 2013, pp 2370-2394.

FULL TEXT

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging.

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging. Synofzik M, Srulijes K, Godau J, Berg D, Schöls L; Cerebellum (London, England) [2012, 11(4):1002-1011]

Keywords: mitochondrial DNA polymerase gamma (POLG), POLG-associated ataxia (POLG-A), standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI), transcranial sonography (TCS), Friedreich's ataxia (FA), sensory axonal polyneuropathy type.

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia. Megan Whitnall, Yohan Suryo Rahmanto, Michael L.-H. Huang, Federica Saletta, Hiu Chuen Lok, Lucía Gutiérrez, Francisco J. Lázaro, Adam J. Fleming, Tim G. St. Pierre, Marc R. Mikhael, Prem Ponka, and Des R. Richardson. PNAS 2012 ; published ahead of print November 20, 2012; doi: 10.1073/pnas.1215349109

Keywords: cardiomyopathy, Friedreich ataxia (FA), Frataxin, mitochondrial iron (Fe) metabolism, dietary Fe supplementation, ferritin molecules, Fe phosphorus, and sulfur.

Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia

Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia. Wei Tang, Margaret Dominska, Malgorzata Gawel, Patricia W. Greenwell, Thomas D. Petes. DNA Repair, Available online 20 November 2012. DOI: http://dx.doi.org/10.1016/j.dnarep.2012.10.001

Keywords: Friedreich's ataxia, GAA·TTC triplet repeats, Genome instability, Mutations, Saccharomyces cerevisiae

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology. Daniele Ghezzi, Massimo Zeviani; Mitochondrial Oxidative Phosphorylation, Advances in Experimental Medicine and Biology Volume 748, 2012, pp 65-106. DOI:http://dx.doi.org/10.1007/978-1-4614-3573-0_4

Keywords: Mitochondrial disorders, oxidative phosphorylation (OXPHOS) system, mitochondrial respiratory chain (MRC), mitochondrial DNA, nuclear genes, Complex I, Complex II, Complex III, Complex IV, Complex V, Fe–S Cluster Biosynthesis, Respiratory Chain Supercomplexes.

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia.

The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.

Sponsor:

Edison Pharmaceuticals Inc 

ClinicalTrials.gov Identifier:  NCT01728064

First received: November 13, 2012

 

 

Condition	Intervention	Phase
Friedreich's Ataxia	Drug: Placebo Drug: EPI-743 400 mg Drug: EPI-743 200 mg	Phase 2

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated. Friedreich’s Ataxia Research Alliance (FARA) Press release. Downingtown, PA, November 15, 2012.

“We are tremendously excited about the encouraging results Edison Pharma’s team has obtained with EPI-743 in mitochondrial disease, and about the promising prospects for this upcoming multicenter Friedreich’s ataxia phase 2B study. We strongly encourage all Friedreich’s ataxia patients interested in participating to take the steps above to prepare for this important trial,” said FARA President Ron Bartek.

Adaptive Clinical Trials in Orphan Drug Development

Adaptive Clinical Trials in Orphan Drug Development. Authored by James Sheppard. Liftstream Life Science Newsletter

The benefit to companies and patients in the rare disease space is clear. Adaptive trials offer the possibility to help reduce not only the financial burden but the time constraints too.

Video game–based coordinative training improves ataxia in children with degenerative ataxia

Video game–based coordinative training improves ataxia in children with degenerative ataxia. Winfried Ilg, PhD, Cornelia Schatton, Julia Schicks, MD, Martin A. Giese, PhD, Ludger Schöls, MD and Matthis Synofzik, MD; Neurology November 13, 2012 vol. 79 no. 20 2056-2060, doi: 10.1212/WNL.0b013e3182749e67


This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia ....

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial. Edison Press Release, November 13, 2012, Rev. FINAL

Role of DNA Polymerases in Repeat-Mediated Genome Instability.

Role of DNA Polymerases in Repeat-Mediated Genome Instability. Shah KA, Shishkin AA, Voineagu I, Pavlov YI, Shcherbakova PV, Mirkin SM.; Cell Rep. 2012 Nov 7. doi: 10.1016/j.celrep.2012.10.006

OPEN ACCESS

FULL TEXT PDF

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?. Dr. IMMA CASTALDO, Dr. Paola Vergara, Dr. Michele Pinelli, Prof. Alessandro Filla, Prof. Giuseppe De Michele, Prof. Sergio Cocozza, and Dr. Antonella Monticelli; Antioxidants & Redox Signaling. null, Vol. 0, No. ja

Keywords: oxidative stress, inflammation, telomere erosion, Friedreich's ataxia, frataxin expression, inflammatory genes, neuronal death, telomere shortening, biomarker.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia. Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio HM. Dis Model Mech. 2012 Nov 7.

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disorder, hypertrophic cardiomyopathy, frataxin level, cellular models, induced pluripotent stem cells (iPSCs).

FULL TEXT PDF

Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases

Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases. Meenakshi Malhotra, Catherine Tomaro-Duchesneau, Satya Prakash. Biomaterials, Available online 7 November 2012. DOI: http://dx.doi.org/10.1016/j.biomaterials.2012.10.013.

Keywords: Chitosan, PEG, TAT, siRNA, Nanoparticles, Gene delivery, Neurodegenerative diseases.

Gene therapy: Glybera approved by European Commission

European Commission approves uniQure’s gene therapy, Glybera

The European CommissionA has given Glybera marketing authorisation in Europe for the first time, this treatment corrects errors in a person's genetic code

It's an important step that opens the door to this type of treatment in many genetically based Diseases. The race to reach gene therapy to patients has begun!!!!

European Commission Public health

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response. Natalia Gabrielli, José Ayté and Elena Hidalgo. JBC, Journal of Bological Chemistry, First Published on October 31, 2012, doi: 10.1074/jbc.M112.421735 jbc.M112.421735.

Keywords: Friedreich ataxia, frataxin, iron homeostasis, oxidative stress, Fep1, Php4, Grx4, S. pombe

FULL TEXT PDF

Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain

Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain. Stephen F.J. McGovern, Kerry Hunter, Christian Hölscher, Brain Research, Volume 1473, 14 September 2012, Pages 204-213. http://dx.doi.org/10.1016/j.brainres.2012.07.029.

Keywords: Insulin, Incretin, Neurodegenerative disease, Alzheimer's disease, Cognition, Diabetes, Neurogenesis.

The results demonstrate that (Val8)GLP-1 is safe in a range of doses, crosses the BBB and has potentially beneficial effects in the CNS by enhancing neurogenesis.


Fármaco antidiabético contra las enfermedades neurodegenerativas

An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia

An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia.

The purpose of this study is to document the clinical effects of bupropion and citalopram in a single subject with Friedreich Ataxia.(Phase 4)

ClinicalTrials.gov
Identifier: NCT01716221
First received: October 25, 2012

Sponsor: University of Colorado, Denver
Information provided by (Responsible Party): University of Colorado, Denver

Microsatellites as targets of natural selection.

Microsatellites as targets of natural selection. Haasl RJ, Payseur BA.; Mol Biol Evol. 2012 Oct 27.

Keywords: polymorphism, natural selection, mutation, multiallelic loci, microsatellites, microsatellite mutation, Friedreich's ataxia.

Lesser Toe Deformities – Pathogenesis and Practice-Oriented Nomenclature

Lesser Toe Deformities – Pathogenesis and Practice-Oriented Nomenclature. Deformitäten der Kleinzehen – Pathogenese und praxisnahe Nomenklatur. Veronika Redkina, Alexander Sikorski, Johannes Beike; Fuß & Sprunggelenk, Available online 29 October 2012. http://dx.doi.org/10.1016/j.fuspru.2012.10.001

Published in German

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia: A Systematic Review

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia: A Systematic Review. Louise A. Corben, Nellie Georgiou‑Karistianis, John L. Bradshaw, Marguerite V. Evans‑Galea, Andrew J. Churchyard and Martin B. Delatycki;
From the book Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease, Edited by: Anthony J. Hannan, ISBN: 978-1-4614-5433-5, Publication date: October 26, 2012

Neuroanatomical Correlates of Depression in Friedreich's Ataxia: a Voxel-Based Morphometry Study.

Neuroanatomical Correlates of Depression in Friedreich's Ataxia: a Voxel-Based Morphometry Study. da Silva CB, Yasuda CL, D'Abreu A, Cendes F, Lopes-Cendes I, França MC Jr.; Cerebellum. 2012 Oct 24.

Keywords: Affective disorders, neurodegenerative diseases, poor quality of life, depression, Beck Depression Inventory, cerebral 3 T MRI scans, structural abnormalities, white matter, reduction of gray matter volumes.

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms”

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms” , Roger E. Peverill, MB, BS, PhD; Circulation. 2012; 126: e272 doi: 10.1161/CIRCULATIONAHA.112.115287

Keywords: Friedreich ataxia (FA), cardiac disease, premature mortality, cardiomyopathy in FA, left ventricular (LV) mass, interventricular septal thickness.

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia, Timothy E Richardson and James W Simpkins, BMC Pharmacology and Toxicology 2012, doi:10.1186/2050-6511-13-12. Published: 22 October 2012

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These preliminary data demonstrate that estrogen and soy-derived equols could have a beneficial effect in delaying the onset and decreasing the severity of symptoms in FRDA patients by an antioxidant mechanism. In addition, these data confirm that the protection seen previously with E2 was indeed unrelated to ER binding.

Novel Therapeutic Challenges in Cerebellar Diseases

Novel Therapeutic Challenges in Cerebellar Diseases. Antoni Matilla Dueñas, Carme Serrano, Yerko Ivanovic, Ramiro Alvarez, Pilar Latorre, and David Genıs. Documentos RIBERMOV (19/10/2012)

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New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia

New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia.  Professor Martin Delatycki.  Federal Government's National Health and Medical Research Council (NHMRC) funding (Australia).

Chemical and technological delivery systems for idebenone: a review of literature production

Chemical and technological delivery systems for idebenone: a review of literature production. Claudia Carbone, Rosario Pignatello, Teresa Musumeci, and Giovanni Puglisi; Expert Opinion on Drug Delivery, November 2012, Vol. 9, No. 11 : Pages 1377-1392. doi: 10.1517/17425247.2012.724396.

Keywords: antioxidant activity, cyclodextrins, drug delivery systems, lipoamino acids, liposomes, microemulsions, nanoparticles, prodrugs, SLN, solid lipid nanoparticles, Idebenone (IDE).

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Joel M. Gottesfeld and Elizabeth A. Thomas. PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 Comment posted by joelg on 19 Oct 2012 at 18:39 GMT

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent. Biotechnology Law Report. October 2012, 31(5): 473-473, doi:10.1089/blr.2012.9711.

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia. Haiyan Xia1, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A. Pook, Silke Leimkühler, Tracey A. Rouault, Kuanyu Li; PLoS ONE 7(10): e47847. doi:10.1371/journal.pone.0047847

"Findings highly relevant to understanding the mechanism of tissue-specific pathology in FRDA."

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Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome

PhD Research Project: Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome. Dr N Gromak, Sir William Dunn School of Pathology, University of Oxford. Application Deadline: 04 January 2013.

Keywords: expanded repeat sequences, Friedreich ataxia, Fragile X syndrome, frataxin (FXN) gene, transcriptional defect, transcriptional silencing.

When secondary comes first – the importance of non-canonical DNA structures

When secondary comes first – the importance of non-canonical DNA structures. Natalie Saini, Yu Zhang, Karen Usdin, Kirill S. Lobachev; Biochimie, Available online 16 October 2012.

Keywords: Triplex, G-quartet, hairpin, cruciform, Holliday junction, RNA:DNA hybrid, replication transcription collision, evolution, polymorphisms and diseases.

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA. Source: Patent #WO2012138289 (BERGQUIST, HELEN,; GOOD, LIAM; ZAIN-LUQMAN, RULA,; ZAIN-LUQMAN RULA; BERGQUIST HELEN; GOOD LIAM), 2012-10-11

Keywords: oligonucleotides, peptide nucleic acid oligonucleotide, triplex-helix DNA structures, Friedreich's ataxia.

Potential therapeutic applications of differentiated induced pluripotent stem cells (iPSCs) in the treatment of neurodegenerative diseases

Potential therapeutic applications of differentiated induced pluripotent stem cells (iPSCs) in the treatment of neurodegenerative diseases; Aijing Gao, Yuhua Peng, Yulin Deng, Hong Qing. Neuroscience, Available online 13 October 2012

Keywords: Induced pluripotent stem cells (iPSCs), Neurodegerative diseases, Cell therapy, Reprogramming factors, Differentiation, Immunogenicity.

Although iPSCs technology is in its infancy and faces many obstacles, it has great potential in helping to identify therapeutic targets for treating neurodegenerative diseases.

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues,Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, et al. (2012), PLoS ONE 7(10): e47085. doi:10.1371/journal.pone.0047085

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"It is tempting to speculate that Pms2 may serve as a genetic modifier of the disease phenotype in Friedreich ataxia."

Neurodegeneration as an RNA Disorder

Neurodegeneration as an RNA Disorder; Rory Johnson, Wendy Noble, Gian Gaetano Tartaglia, Noel J. Buckley; Progress in Neurobiology, Available online 10 October 2012

Keywords Neurodegeneration, neurodegenerative disease, non-coding RNA, Alzheimer's disease, Parkinson's disease, Huntington's disease, trinucleotide repeat disorder, BACE1, REST, long non-coding RNA, microRNA, HAR1, SOX2OT, mir-9, mir-132, mir-124.

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases; Johnson, William M.; Wilson-Delfosse, Amy L.; Mieyal, John. J.; Nutrients. 2012; 4(10):1399-1440.

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Keywords: glutathione; N-acetylcysteine; oxidative stress; redox signaling; neurodegenerative diseases; Friedreich's Ataxia; apoptosis; protein aggregation; glutathionylation; nitrosylation


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Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba

Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba. Cruz Mariño, Tania (2012). Tesis presentada en opción al grado científico de Doctor en ciencias médicas. Universidad de ciencias médicas de La Habana.

Palabras clave: Ataxia de Friedreich; Ataxias hereditarias; Epidemiología; Diagnóstico; Clínica; Análisis Molecular; Estudio Descriptivo Transversal; Gen de Ataxia de Friedreih; Cuba

PDF Available under License Reconocimiento-No comercial-Sin obras derivadas.

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons; Carolina Franco, Silvia Fernandez and Ignacio Torres Aleman; Molecular Neurodegeneration 2012, 7:51 doi:10.1186/1750-1326-7-51 Published: 5 October 2012

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KEYWORDS: Friedreich s ataxia (FRDA), frataxin (Fxn), insulin-like growth factor I (IGF-I), neurons, astrocytes, Akt/mTOR signaling pathway.

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia.
Gary Rance, Louise A. Corben and Martin B. Delatycki; Journal of Neurology 2012, DOI: 10.1007/s00415-012-6679-z.

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy ; Dimitrios Stergios Evangelopoulos, Tatiana Nataly Pirvu, Aristomenis Exadaktylos, Sandro Kohl; BMJ Case Reports published online 3 October 2012, doi:10.1136/bcr-2012-006550

Keywords: Friedreich's ataxia, inflammatory parameters, elevated troponin, B-type natriuretic peptide, proteinuria, thromboembolic kidney infarction, lifelong oral anticoagulation.

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return; Cardiopatía dilatada en ataxia de Friedreich: el punto sin retorno; Luis E. Silva, MD., Leidy P. Prada, MD., Hugo Páez, MD., Andrés F. Buitrago, MD., Carlos Franco, MD., Robinson Sánchez, MD., Iván Rendón, MD.; Rev Colomb Cardiol 2012; 19: 100-104.

Language Spanish

KEYWORDS: Friedreich’s ataxia, infi ltrative heart disease, dilated cardiomyopathy, idebenone.

PALABRAS CLAVE: ataxia de Friedreich, cardiopatías infi ltrativas, cardiomiopatía dilatada, idebenona.

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union; Seppo Ylä-Herttuala. Molecular Therapy (2012); 20 10, 1831–1832. doi:10.1038/mt.2012.194

Editorial-full text

Despite these problems and difficulties, the final opinion in favor of Glybera is encouraging news for the gene and cell therapy communities, and hopefully evaluation of the twists and turns of the plot of this saga will help to streamline the regulatory processes of other gene and cell therapy products so that this new area of medicine can eventually fulfill its promise in human medicine

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Francis G. Blankenberg, Stephen L. Kinsman, Bruce H. Cohen, Michael L. Goris, Kenneth M. Spicer, Susan L. Perlman, Elliot J. Krane, Viktoria Kheifets, Martin Thoolen, Guy Miller, Gregory M. Enns, Molecular Genetics and Metabolism, Available online 28 September 2012.

KEYWORDS: Biomarkers, HMPAO, mitochondrial disease, EPI-743, redox, SPECT, Leigh syndrome, polymerase γ deficiency, MELAS, Friedreich ataxia, Kearns–Sayre syndrome, Pearson syndrome, mtDNA depletion syndrome.

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

WASHINGTON, Sept. 28, 2012 /PRNewswire-USNewswire/ -- Patient advocates, industry leaders, medical researchers, government professionals and investors will address together "Shaping the Future Now" at the 2nd annual U.S. Conference on Rare Diseases and Orphan Products in Washington, DC October 22 – 24

Ronald J. Bartek, President / Director / Co-founder, Friedreich's Ataxia Research Alliance is one of the speakers.

"It is unique in that it draws together all stakeholders to address the shared challenge - how to accelerate the development of safe, effective treatments for people with rare diseases."

Protein Stability and Dynamics Modulation: The Case of Human Frataxin

Protein Stability and Dynamics Modulation: The Case of Human Frataxin. Roman EA, Faraj SE, Gallo M, Salvay AG, Ferreiro DU, et al., PLoS ONE 7(9): e45743. doi:10.1371/journal.pone.0045743 (2012)

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Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases

Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases,  Estrategias para potenciar el aprendizaje motor en el tratamiento vocal de las enfermedades neurodegenerativas. Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero;Revista de Logopedia, Foniatría y Audiología, Available online 24 September 2012

Language ESP

Keywords: Motor learning, Speech motor control, Treatment efficacy, Parkinson's disease, Outcomes generalization, Voice loudness, Neurodegenerative diseases, Lee Silverman voice treatment.

Palabras clave: Aprendizaje motor, Control motor del habla, Eficacia terapéutica, Enfermedad de Parkinson, Generalización de resultados, Intensidad vocal, Enfermedades neurodegenerativas, Tratamiento vocal intensivo.

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease. Dr Pierre Rustin. IBT and TGPBB International Seminars, Tampereen yliopisto (Finland)

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway. Andria Rodrigues, Jeremy Cook, Andrew Dancis, Timothy Stemmler. Wayne State University, School of medicine, Graduate Student Research Day (GSRD-XVI), Setember, 27/2012

POSTER P49

The Second Annual EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) Newsletter EFACTS NEWS

TheSecond Annual EFACTS (European Friedreich’s Ataxia Consortium forTranslational Studies) Newsletter EFACTS NEWS

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia

Relation of Cytosolic Iron Excess to Cardiomyopathy of Friedreich's Ataxia, R. Liane Ramirez, Jiang Qian, Paolo Santambrogio, Sonia Levi, Arnulf H. Koeppen. The American Journal of Cardiology, Available online 20 September 2012.

Keywords: Cardiomyopathy, Friedreich's ataxia, frataxin gene, iron (Fe)-sulfur clusters, sarcoplasmic Fe, cardiomyocyte hypertrophy, fiber necrosis, myocardial scarring, Fe, ferritin, ferroportin, zinc.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Cerebellum. 2012 Jun;11(2):488-504.

Keywords: systematic review, ataxia scales, natural history, clinical trials,ICARS, SARA, MICARS, BARS, UMSARS, FARS, NESSCA, INAS, CATSYS 2000, AFCS, CCFS CCFSw, SCAFI, FAIS, SARA, ICARS.

Mitochondrial Dynamics in Cardiovascular Health and Disease

Mitochondrial Dynamics in Cardiovascular Health and Disease ; Sang-Bing Ong, Andrew R. Hall, and Derek J. Hausenloy. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4777.

Keywords: Mitochondria, mitochondrial dynamics, fission and fusion proteins, cardiovascular health and disease, identification of novel therapeutic targets.

Binaural Speech Processing in Individuals with Auditory Neuropathy

Binaural Speech Processing in Individuals with Auditory Neuropathy; Gary Rance, Monique M. Ryan, Peter Carew, Louise A. Corben, Eppie Yiu, Johanna Tan, Martin B. Delatycki; Neuroscience, Available online 13 September 2012.

Keywords: Auditory neuropathy, Friedreich's ataxia, Charcot-Marie-Tooth, Binaural, Spatial processing, (FARS) Friedreich ataxia rating scale, speech reception threshold.

Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases

Revisión del concepto de eficacia en el tratamiento vocal de las enfermedades neurodegenerativas; Revising the concept of efficacy in the vocal therapy of neurodegenerative diseases; Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero; Revista de Logopedia, Foniatría y Audiología, Available online 10 September 2012

Keywords: Dysarthria, Laryngeal dysfunction, Treatment efficacy, Neurodegenerative diseases, Parkinson's disease, Respiratory insufficiency, Therapeutic outcomes, Voice and speech therapy

Palabras clave: Disartria, Disfunción laríngea, Eficacia terapéutica, Enfermedades neurodegenerativas, Enfermedad de Parkinson, Insuficiencia respiratoria, Resultados terapéuticos, Terapia vocal y del habla

Abstracts presented at the American Society of Gene & Cell Therapy’s 15th Annual Meeting, 2012, Philadelphia, Pennsylvania

317. AAV Based Gene Therapy Rescues the Murine Cardiac Phenotype Associated with Friedreich’s Ataxia
 Hélène Puccio, Brahim Belbellaa, Morgane Perdomini, Nathalie Cartier, Patrick Aubourg.


436. A Recombinant Frataxin Protein Fused witha Cell Penetrating Peptide Prevents the Death ofFibroblasts with Knock-Out Frataxin Genes
Jacques P. Tremblay,1 Zoé Coulombe,1 Pierre Chapdelaine.1

784. TALE proteins may be used to induce specific gene expression to treat some diseases

Jacques P. Tremblay, Pierre Chapdelaine, Zoé Coulombe, Joel Rousseau

835. Prospects for the Gene Therapy of Friereich’s Ataxia using Neurotrophic Factors

Yurika Katsu, Frida Loria and Javier Diaz-Nido

Will the floodgates open for gene therapy?

Nature Biotechnology 30, 805 (2012), doi:10.1038/nbt.2363 Published online, 10 September 2012

EDITORIAL.
In a matter of days, a momentous event will occur: a gene therapy will, for the first time anywhere in the Western hemisphere, be available commercially with full marketing approval. read more....

Study identifies genes associated with genomic expansions that cause disease

Simplest explanation of the scientific article : Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

Transcranial ultrasound in adults and children with movement disorders

Transcranial ultrasound in adults and children with movement disorders; Jan Liman, Mathias Bähr, Pawel Kermer; Perspectives in Medicine, Volume 1, Issues 1–12, September 2012, Pages 349-352

Keywords: Ultrasound, Child, Pediatric, Movement disorder, TCS, Friedreich's Ataxia.

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection; Arce, Pablo M.; Goldschmidt, Ruth; Khdour, Omar M.; Madathil, Manikandadas M.; Jaruvangsanti, Jennifer; Dey, Sriloy; Fash, David M.; Armstrong, Jeffrey S.; Hecht, Sidney M.; Bioorganic & Medicinal Chemistry , Volume 20 (17), Elsevier Sep 1, 2012

Keywords: Idebenone, Friedreich's Ataxia, pyridinol analogues, electron transport chain, mitichondrial function.

Friedreich ataxia and bladder disorders

Friedreich ataxia and bladder disorders; E. Guettard, M. Campech, C. Mignard, M. Masanovic; Annals of Physical and Rehabilitation Medicine, Volume 55, Supplement 1, October 2012, Page e377

Keywords: Friedreich ataxia, Bladder disorders, Quality of life.

Sniffing out the cerebellum

Sniffing out the cerebellum; Henry Houlden; J Neurol Neurosurg Psychiatry 2012;83:952-953 doi:10.1136/jnnp-2012-303136

Keywords: cerebellum, primary motor control organ, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), idiopathic Parkinson's disease (PD), spinocerebellar (SCA) Friedreich's ataxia.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.

Human mitochondrial ferritin improves respiratory function in yeast mutants deficient in iron-sulfur cluster biogenesis, but is not a functional homologue of yeast frataxin.Sutak R, Seguin A, Garcia-Serres R, Oddou JL, Dancis A, Tachezy J, Latour JM, Camadro JM, Lesuisse E.; Microbiologyopen. 2012 Jun;1(2):95-104.

Keywords: human mitochondrial ferritin, frataxin-deficient yeast cells (Δyfh1), mitochondrial iron, insoluble particles of ferric phosphate, deficient in [Fe-S] assembly, functional homologue.

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells

Genome-wide Screen Identifies Pathways that Govern GAA/TTC Repeat Fragility and Expansions in Dividing and Nondividing Yeast Cells; Yu Zhang, Alexander A. Shishkin, Yuri Nishida, Dana Marcinkowski-Desmond, Natalie Saini, Kirill V. Volkov, Sergei M. Mirkin, Kirill S. Lobachev; Molecular Cell, Available online 6 September 2012, http://dx.doi.org/10.1016/j.molcel.2012.08.002

Keywords: Triplex structure-forming GAA/TTC repeats, gene inactivation, Friedreich’s ataxia, chromosomal fragile sites, chromosomal rearrangements, DNA replication.

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia;Sunil Sahdeo, Mark Pook, Marek Napierala, Joe Sarsero, Gino Cortopassi; Mitochondrion, Volume 12, Issue 5, September 2012, Pages 571-572, http://dx.doi.org/10.1016/j.mito.2012.07.056

No Abstract

Neurodegenerative disease: Microglia in early disease stages

Neurodegenerative disease: Microglia in early disease stages; Katie Kingwell; Nature Reviews Neurology 8, 475 (September 2012) | doi:10.1038/nrneurol.2012.172

Keywords: neurodegenerative diseases, microglia-mediated CNS inflammation, therapeutic targets and strategies.

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Beconi M, Aziz O, Matthews K, Moumné L, O’Connell C, et al., PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 (2012)
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 Keywords: Histone deacetylase (HDAC) inhibitors, neurological disorders, pimelic diphenylamide HDAC inhibitors, Friedreich’s ataxia, Huntington’s disease.

SIRT3 Regulation of Mitochondrial Oxidative Stress

SIRT3 Regulation of Mitochondrial Oxidative Stress. Alexandra S. Bause, Marcia C. Haigis; Experimental Gerontology, Available online 31 August 2012

Keywords: Mitochondria, reactive oxygen species, metabolism, energy production, mitochondrial ROS detoxification, mitochondrial sirtuin, SIRT3, mitochondrial ROS homeostasis.

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses. Josef Finsterer; Behavioral and Brain Functions 2012, 8:45 doi:10.1186/1744-9081-8-45

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Drugs toxicity is always an added concern in diseases like FA which show greatly diminished mitochondrial function.

Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm

Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm ; J. Cottalorda, P. Violas, R. Seringe, the French Society of Pediatric Orthopaedics. Orthopaedics & Traumatology: Surgery & Research, Available online 30 August 2012

Orthopaedic surgeons are often the first physicians to evaluate paediatric patients in the event of delayed walking, gait abnormalities, or parental concern about motor abilities......

Friedreich’s ataxia in patients with FXN p.R165P point mutation

Friedreich’s ataxia in patients with FXN p.R165P point mutation. E. Ygland, F. Taroni, C. Gellera, M. Duno, P. Johnels, M. Soller, A. Puschmann; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia (FRDA), postural ataxia, dysarthria, neuropathy, muscle weakness, cardiomyopathy, frataxin, GAA trinucleotide expansions in FXN, point mutation, FXN p.R165P missense mutation, FRDA rating scale (FARS), hemochromatosis, iron metabolism.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population. F. Imounan, N. Bouslam, W. Regragui, E.H. Ait Benhaddou, A. Bouhouche, A. Benomar, M. Yahyaoui, Neurogenetics Study Group; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia, ataxia with vitamin E deficiency (AVED), 744 delA mutation, GAA expanded allele, alphatocopherol treatment.

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia. E.M. Yiu, R. Peverill, G. Tai, C. Stockley, J. Sarsero, M. Evans-Galea, A. Churchyard, L. Corben, K. Lee, M.M. Ryan, M.B. Delatycki; Neuromuscular Disorders, Volume 22, Issues 9–10, October 2012, Page 851

Keywords: Friedreich ataxia (FRDA), Resveratrol, plant-derived compound, frataxin expression, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels, FXN mRNA expression, markers of oxidative stress, clinical measures of FRDA, echocardiography, safety, pharmacokinetic data.

"SILEC: A new tool to study mitochondrial and metabolic disease"

"SILEC: A new tool to study mitochondrial and metabolic disease" . Sankha S Basu, University of Pennsylvania (January 1, 2012). Dissertations available from ProQuest. Paper AAI3508967. http://repository.upenn.edu/dissertations/AAI3508967

Keywords: Coenzyme A (CoA), CoA thioesters, Stable Isotope Labeling with Essential nutrients in Cell culture (SILEC), [13C15N]-pantothenate, glutathione-CoA (CoASSG), Friedreich's Ataxia (FA), frataxin, novel biomarkers.

A Review of Friedreich Ataxia Clinical Trial Results

A Review of Friedreich Ataxia Clinical Trial Results; Susan L. Perlman, MD; J Child Neurol September 2012 vol. 27 no. 9 1217-1222, doi: 10.1177/0883073812453872

Keywords: therapeutic agents, Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html), frataxin gene, ClinicalTrials.gov, translational and clinical research.

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich; Tania Cruz Mariño, José Alberto Álvarez Cuesta, Raúl Aguilera Rodríguez, Luis Velásquez Pérez; Ciencias Holguín, Revista trimestral, Año XVII, Enero-marzo, 2011.

Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

 Full text Spanish, Abstrac English

Keywords: RESONANCIA MAGNÉTICA NUCLEAR; ATAXIA DE FRIEDREICH; ATAXIAS HEREDITARIAS; NUCLEAR MAGNETIC RESONANCE, FRIEDREICH'S ATAXIA, HEREDITARY ATAXIA.

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion ; Anasheh Halabi, Scott Ditch, Jeffrey Wang, and Ed Grabczyk; J. Biol. Chem. 2012 287: 29958-29967. First Published on July 11, 2012, doi:10.1074/jbc.M112.356758

Keywords: DNA repair, CAG·CTG repeat expansion, Friedreich ataxia (FRDA), human cellular model, expansion rate, DNA repair enzymes, MutSβ, MSH2, MSH3, FXN gene. therapeutic target.

Hypertrophic Cardiomyopathy–What Is New?

Hypertrophic Cardiomyopathy–What Is New?; P. Gregor, K. Curila; Cor et Vasa, Available online 22 August 2012, ISSN 0010-8650, 10.1016/j.crvasa.2012.08.005. (http://www.sciencedirect.com/science/article/pii/S0010865012000975?v=s5)

Keywords: Hypertrophic cardiomyopathy; Myocardial hypertrophy; Therapy of hypertrophic; Cardiomyopathy; Septal myectomy; Percutaneous septal myocardial ablation

MDA Commits $10.7 Million to Neuromuscular Disease Research

QUEST, MDA'S Research & Health Magazine; July-September 2012 Issue, Tuesday August 21, 2012

Friedreich's Ataxia-specific grant: Investigators will be studying how Schwann cells cause nerve damage (neuropathy) in Friedreich's ataxia.

Fellowship: Transcriptional control of the frataxin gene

Fellowship posted by Italian Ministry of Education, University and Research (21/08/2012 02.19). European Research Council funded fellowship Transcriptional control of the frataxin gene

Fellowship: Development of therapeutically active molecules for Friedreich ataxia

Fellowship posted by Italian Ministry of Education, University and Research (21/08/2012 02.20). Development of therapeutically active molecules for Friedreich ataxia

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders, Stéphane Viville and on behalf of the BruMaStra PGD working group; European Journal of Human Genetics 20, 368-375 (April 2012) | doi:10.1038/ejhg.2011.202

To consider new pregnancy possibility when there is a previous confirmed diagnosis of a child with FA is an issue that usually concerns many young couples. The "Preimplantation genetic diagnosis" (PGD) also can be a valuable and safe reproductive option for FA carriers and couples at risk of transmitting FA.
(Without consider ethical implications and personal religious beliefs).

Mitochondrial sirtuins: regulators of protein acylation and metabolism

Mitochondrial sirtuins: regulators of protein acylation and metabolism; Wenjuan He, John C. Newman, Margaret Z. Wang, Linh Ho, Eric Verdin; Trends in Endocrinology & Metabolism, Available online 16 August 2012, ISSN 1043-2760, 10.1016/j.tem.2012.07.004. (http://www.sciencedirect.com/science/article/pii/S1043276012001294)

Keywords: mitochondria, sirtuins, lysine acylation, metabolism, NAD+-dependent protein deacetylases, stress responses, SIRT3, SIRT4, SIRT5, deacetylation, demalonylation, desuccinylation.

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

The optic nerve: A “mito-window” on mitochondrial neurodegeneration. Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli; Molecular and Cellular Neuroscience, Available online 14 August 2012, ISSN 1044-7431, 10.1016/j.mcn.2012.08.004. (http://www.sciencedirect.com/science/article/pii/S1044743112001315?v=s5)

 Keywords: Mitochondrial disease, Optic atrophy, Mitochondrial functions, LHON, DOA, Friedreich's Ataxia, Retinal ganglion cells

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Job vacancies at Laboratory of Annalisa Pastore, MRC National Institute for Medical Research, London

Career Development Fellowship, Structural characterization of the iron sulfur cluster biogenesis machinery, Division of Molecular Structure, Laboratory of Annalisa Pastore

Heterotrifunctional chemical crosslinking mass spectrometry confirms physical interaction between human frataxin and ISU

Heterotrifunctional chemical crosslinking mass spectrometry confirms physical interaction between human frataxin and ISU. Watson HM, Gentry LE, Asuru AP, Wang Y, Marcus S, Busenlehner LS.; Biochemistry. 2012 Aug 16. [Epub ahead of print]

Keywords: Friedreich's ataxia, frataxin, iron chaperone, iron-sulfur clusters, new protein partners and pathways.

Management and therapy for cardiomyopathy in Friedreich’s ataxia

Management and therapy for cardiomyopathy in Friedreich’s ataxia.David R Lynch, Sean R Regner, Kimberly A Schadt, Lisa S Friedman, Kimberly Y Lin and Martin G St John Sutton. Expert Review of Cardiovascular Therapy, June 2012, Vol. 10, No. 6 , Pages 767-777 (doi: 10.1586/erc.12.57) Keywords: Friedreich’s ataxia, cardiomyopathy, congestive heart failure, ventricular arrhythmias, cardio–embolic stroke.

Iron-Sulfur Cluster Synthesis, Iron Homeostasis and Oxidative Stress in Friedreich Ataxia

Iron-Sulfur Cluster Synthesis, Iron Homeostasis and Oxidative Stress in Friedreich Ataxia; Rachael A. Vaubel, Grazia Isaya; Molecular and Cellular Neuroscience, Available online 10 August 2012, http://dx.doi.org/10.1016/j.mcn.2012.08.003

Keywords: frataxin, mitochondria, heme, oxidative stress, anti-oxidants, iron-chelators, ISC, iron-sulfur clusters, FRDA, Friedreich ataxia, NFS1/Nfs1, human/yeast cysteine desulfurase, ISD11/Isd11, human/yeast NFS1-/Nfs1-binding protein, ISCU/Isu1, human/yeast scaffold protein, MPP, mitochondrial processing peptidase.

The Essential Iron-Sulfur Protein Rli1 is an Important Target Accounting for Inhibition of Cell Growth by Reactive Oxygen Species

The Essential Iron-Sulfur Protein Rli1 is an Important Target Accounting for Inhibition of Cell Growth by Reactive Oxygen Species.Alhebshi A, Sideri TC, Holland SL, Avery SV.; Mol Biol Cell. 2012 Aug 1. Keywords: Oxidative stress, reactive oxygen species (ROS), molecular target(s), Rli1p (ABCE1), ROS-labile cofactors (Fe-S clusters).

Role of frataxin in erythropoietin- and carbamoylated erythropoietin- mediated neuroprotective effects in the mouse retina after acute retinal ischemia/reperfusion in vivo

Role of frataxin in erythropoietin- and carbamoylated erythropoietin- mediated neuroprotective effects in the mouse retina after acute retinal ischemia/reperfusion in vivo. Rowena Schultz, Otto W Witte, Christian Schmeer F1000 Posters 2012, 3: 889 (poster); Presented at 7th International Symposium on Neuroprotection and Neurorepair 2012, 2 - 5 May 2012, PIII -40

POSTER

Quantitative Analysis to Guide Orphan Drug Development

Quantitative Analysis to Guide Orphan Drug Development.L J Lesko. Clinical Pharmacology & Therapeutics (2012); 92 2, 258–261. doi:10.1038/clpt.2012.80

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Neuroprotection with non-feminizing estrogen analogues: An overlooked possible therapeutic strategy

Neuroprotection with non-feminizing estrogen analogues: An overlooked possible therapeutic strategy.James W. Simpkins, Timothy E. Richardson, Kun Don Yi, Evelyn Perez, Douglas F. Covey; Hormones and Behavior, Available online 3 April 2012. http://dx.doi.org/10.1016/j.yhbeh.2012.03.013. This article is part of a Special Issue entitled Hormones & Neurotrauma.

Keywords: estrogens, estrogen receptors (ERs), neuroprotective activity, non-ER mechanisms, synthetic non-feminizing estrogens, phenolic, Friedreich's Ataxia, cell model, oxidative stress, Hormone therapy.

Unintended effects of orphan product designation for rare neurological diseases

Unintended effects of orphan product designation for rare neurological diseases, Sinéad M Murphy, Araya Puwanant and Robert C. Griggs, the CINCH IHC Consortia of the Rare Disease Clinical Research Network Unintended effects of orphan product designation for rare neurological diseases. Annals of Neurology, Accepted manuscript online: 22 JUN 2012 03:53AM EST | DOI: 10.1002/ana.23672.

Epigenetic mechanisms in neurological disease

Epigenetic mechanisms in neurological disease. Mira Jakovcevski & Schahram Akbarian;Nature Medicine 18, 1194–1204(2012) doi:10.1038/nm.2828. Published online 06 August 2012.

Keywords: epigenomes, DNA methylation, covalent histone modifications, chromatin defects, neurodegenerative disease, neuroepigenetics.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions. Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.J Child Neurol 0883073812448840, first published on August 1, 2012 Keywords: Childhood ataxia, Friedreich ataxia, GAA repeat expansion, frataxin gene, mitochondrial function, reactive oxygen species, iron.

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells. Mari Sawamoto, Takafumi Imai, Mana Umeda, Koji Fukuda, Takao Kataoka and Shigeru Taketani; Photochemistry and Photobiology. Accepted manuscript online: 3 AUG 2012 02:40AM EST | DOI: 10.1111/j.1751-1097.2012.01215.x Keyword: Mitochondrial frataxin, iron homeostasis, iron-sulfur cluster biogenesis, oxidative stress, apoptosis, tumor suppressor, p53-dependent, heme biosynthesis, 5-aminolevulinic acid (ALA).

Ethical Considerations in Orphan Drug Approval and Use

Ethical Considerations in Orphan Drug Approval and Use. A S Kesselheim. Clinical Pharmacology & Therapeutics (2012); 92 2, 153–155. doi:10.1038/clpt.2012.92  

We conclude that small studies of appropriate design can support US FDA approval of new medicines for rare diseases.

Posturographie

Posturographie. Dagmar Timmann-Braun. Das Neurophysiologie-Labor, Available online 12 July 2012, DOI: http://dx.doi.org/10.1016/j.neulab.2012.05.001

Keywords: static posturography, dynamic posturography, computerized posturography, sensory organization test, postural responses.

Sniffing out the cerebellum

Sniffing out the cerebellum. Henry Houlden, J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2012-303136

 Keywords: cerebellum, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), Parkinson's disease (PD), spinocerebellar (SCA), Friedreich's ataxia.

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation. Michael J. Keogh, BMBS, MSc, MRCP, Patrick F. Chinnery, MBBS, PhD, FRCP, FMedSc. Seminars in Pediatric Neurology Volume 19, Issue 2, June 2012, Pages 51–56. DOI: http://dx.doi.org/10.1016/j.spen.2012.03.004

Keywords: Neurodegeneration, brain iron accumulation (NBIA), phenotypic heterogeneity, NBIA pathogenesis.

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening.Jaffar M Khan, Alexander R. Lyon and Sian E. Harding; British Journal of Pharmacology. Accepted manuscript online: 27 JUL 2012 DOI: 10.1111/j.1476-5381.2012.02118.x

Keywords: cardiac, stem cell, embryonic, iPSC, safety, cardiotoxicity, high throughput, drug screening models, human cardiomyocytes, pharmacology.

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene. G. Romanelli, M. Delatycki, L. Donelan, R. Hassam, L. Corben, R. Peverill. Heart, Lung and Circulation, Volume 21, Supplement 1, 2012, Pages S273 DOI: http://dx.doi.org/10.1016/j.hlc.2012.05.668

Keywords: Increased LV RWT, GAA1, LV size, wall thickness or mass, age.

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function. L. Eng, D. Duncan, I. Cukovski, L. Jijnasu, K. Davies, P. Palka. Heart, Lung and Circulation Volume 21, Supplement 1, 2012, Pages S201–S202. http://dx.doi.org/10.1016/j.hlc.2012.05.499.

Keyword: Friedreich's ataxia (FRDA), cardiac dysfunction, ,FRDA cardiomyopathy, left ventricular hypertrophy, diastolic dysfunction, myocardial dysfunction, echocardiographic, cardiac dimensions, Doppler imaging (TDI).

Epigenetic mechanisms governing the process of neurodegeneration

Epigenetic mechanisms governing the process of neurodegeneration. Irfan A. Qureshi, Mark F. Mehler. Molecular Aspects of Medicine, Available online 7 July 2012. DOI: http://dx.doi.org/10.1016/j.mam.2012.06.011

 Keywords: Chromatin, Epigenetic, Histone deacetylase, Histone modification, Neurodegenerative disease, Non-coding RNA.

Unanswered Questions in Friedreich Ataxia.

Unanswered Questions in Friedreich Ataxia. Lynch DR, Deutsch EC, Wilson RB, Tennekoon G.J Child Neurol. 2012 Jul 25. [Epub ahead of print]

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.

Diabetes Mellitus in Children and Adolescents with Genetic Syndromes.Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer T, Holl RW; for the DPV-Wiss Study Group and the BMBF Competence Network Diabetes.Exp Clin Endocrinol Diabetes. 2012 Mar 22.

 Keywords: genetic syndromes, diabetes mellitus (DM), DPV database, frequency, treatment strategies, long-term complications, paediatric DM patients, Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS), Down syndrome (DS).

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection

Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection. Pablo M. Arce, Ruth Goldschmidt, Omar M. Khdour, Manikandadas M. Madathil, Jennifer Jaruvangsanti, Sriloy Dey, David M. Fash, Jeffrey S. Armstrong, Sidney M. Hecht. Bioorganic & Medicinal Chemistry, Available online 14 July 2012. DOI: http://dx.doi.org/10.1016/j.bmc.2012.07.005

Keywords: pyridinol analogues, neuroprotective, idebenone, antioxidants, mitochondrial function, electron transport chain, Reactive oxygen species.

A New And Powerful Class Of Antioxidants Could One Day Be A Potent Treatment For Parkinson's Disease

Georgia Health Sciences University. "A New And Powerful Class Of Antioxidants Could One Day Be A Potent Treatment For Parkinson's Disease." Medical News Today. MediLexicon, Intl., 25 Jul. 2012. Web.

 Acting on the target NRF2 could be also very interesting in the FA

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia. Dey R, Kemp K, Gray E, Rice C, Scolding N, Wilkins A.; Cerebellum. 2012 Jul 24

 Keywords: Friedreich's ataxia (FRDA), Oxidative damage, oxidative stress, frataxin deficiency, bone marrow-derived mesenchymal stem cells (MSCs), superoxide dismutase (1 and 2) enzymes, conditioned medium from human MSCs, nitric oxide-induced oxidative stress, PI(3) kinase/Akt.

Genetic testing in neurology

Genetic testing in neurology. Victoria Harrison, Andrea H. Nemeth; Medicine Volume 40, Issue 8, August 2012, Pages 463–467. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.009

 Keywords: carrier testing, confidentiality, consent, diagnostic testing, genetic testing, neurogenetics, neurology, presymptomatic testing.

Ataxia

Ataxia. Georgina Burke, Simon Hammans. Medicine, Volume 40, Issue 8, August 2012, Pages 435–439. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.004.

Keywords: ataxia, cerebellum, Creutzfeldt–Jakob disease, Friedreich's, multiple sclerosis, paraneoplastic, proprioception, spinocerebellar ataxia.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.V. Foti Cuzzola, R. Ciurleo, S. Giacoppo, S. Marino, P. Bramanti. CNS Neurol Disord Drug Targets. 2011 Nov;10(7):849-62. Keywords: Neurodegenerative diseases, inflammatory mechanism, blood-brain barrier, Resveratrol (RSV), cardio- and neuro-protection, immune regulation, cancer chemoprevention, tumor necrosis factor, cyclooxygenase 2, inducible nitric oxide synthase, interleukins.

European Medicines Agency gives first approval of gene therapy for rare disease

European Medicines Agency recommends first gene therapy for approval. European Medicines Agency, Press release 20/07/2012  

Gene therapy is a great hope for rare diseases of genetic origin, such as Friedreich's ataxia. This is a big step, gene therapy can come out the research laboratories and may be sold by a pharmaceutical laboratory, this authorization would boost the interest of pharmaceutical companies to invest in the development of these therapies.

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Gene, Stem Cell, and Future Therapies for Orphan Disease

State of the Art. Gene, Stem Cell, and Future Therapies for Orphan Disease. M Ian Phillips. Clinical Pharmacology & Therapeutics (2012); 92 2, 182–192. doi:10.1038/clpt.2012.82

FULL TEXT

The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes

The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes. Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez, Dionysios Lefkaditis, Fabrice Moore, Jean-Pierre Brion, J Mark Cooper, Anthony HV Schapira, Anne Clark, Arnulf H Koeppen, Piero Marchetti, Massimo Pandolfo, Décio L Eizirik and Françoise Féry.  Annals of Neurology. Accepted manuscript online: 20 JUL 2012. DOI: 10.1002/ana.23698

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disease, frataxin gene, diabetes, insulin resistance, β-cell failure, disposition index, Pancreatic β-cell dysfunction, mitochondrial dysfunction.

The Role of Academic Institutions in the Development of Drugs for Rare and Neglected Diseases

The Role of Academic Institutions in the Development of Drugs for Rare and Neglected Diseases. L D Coles and J C Cloyd. Clinical Pharmacology & Therapeutics (2012); 92 2, 193–202. doi:10.1038/clpt.2012.83.

The Future of Orphan Drug Development

The Future of Orphan Drug Development. J Woodcock. Clinical Pharmacology & Therapeutics (2012); 92 2, 146–148. doi:10.1038/clpt.2012.89

FULL TEXT PDF

Skeletal Muscle Involvement in Friedreich Ataxia and Potential Effects of Recombinant Human Erythropoietin Administration on Muscle Regeneration and Neovascularization

Skeletal Muscle Involvement in Friedreich Ataxia and Potential Effects of Recombinant Human Erythropoietin Administration on Muscle Regeneration and Neovascularization. Nachbauer W, Boesch S, Reindl M, Eigentler A, Hufler K, Poewe W, Löscher W, Wanschitz J.;J Neuropathol Exp Neurol. 2012 Jul 16.

Keywords: Friedreich ataxia (FRDA), frataxin, cardiac muscle involvement, mitochondrial dysfunction, skeletal muscle, recombinant human erythropoietin (rhuEPO), neurogenic and myopathic changes.

The Advocate is FARA's newsletter, Summer 2012

The Advocate is FARA's newsletter. It provides updates on FARA's activities including funded research, scientific conferences, and fundraising events

Summer 2012

Cell-Replacement Therapies For Neurological Conditions Via Neurons Derived From Cord Blood Cells

"Cell-Replacement Therapies For Neurological Conditions Via Neurons Derived From Cord Blood Cells." Medical News Today. MediLexicon, Intl., 18 Jul. 2012. Web.

Keywords: transcription factor, cord blood (CB) cells, neuron-like cells, neurological conditions, mesoderm, Sox2, future cell-replacement therapies.

Activating mitochondrial regulator PGC-1α expression by astrocytic NGF is a therapeutic strategy for Huntington's disease

Activating mitochondrial regulator PGC-1α expression by astrocytic NGF is a therapeutic strategy for Huntington's disease. Li-Wen Chen, Lin-Yea Horng, Chia-Ling Wu, Hui-Ching Sung, Rong-Tsun Wu. Neuropharmacology, Volume 63, Issue 4, September 2012, Pages 719-732. DOI: http://dx.doi.org/10.1016/j.neuropharm.2012.05.019

Keywords: Mitochondrial dysfunction, Huntington's disease (HD), NGF gene delivery, brain energy metabolism, neuroprotective effects, peroxisome proliferator-activated receptor gamma coactivator 1-α (PGC-1α), blood–brain barrier, astrocytic NGF inducer, Ganoderma lucidum (GaLu) extract.

Opportunities in systems biology to discover mechanisms and repurpose drugs for CNS diseases

Opportunities in systems biology to discover mechanisms and repurpose drugs for CNS diseases. Hongkang Mei, Tian Xia, Gang Feng, Jason Zhu, Simon Lin, Yang Qiu. Drug Discovery Today, Available online 29 June 2012. DOI: http://dx.doi.org/10.1016/j.drudis.2012.06.015

Keywords: Therapies, central nervous system (CNS) diseases, therapeutic targets, deciphering disease mechanisms, Multiple Level Network Modeling (MLNM) analysis.

The biomechanics of the reaching movement in Friedreich and stroke patients

The biomechanics of the reaching movement in Friedreich and stroke patients. M. Caimmi, M. Malosio, N. Pedrocchi, F. Vicentini, L. Molinari Tosatti, F. Molteni. Gait & Posture, Volume 36, Issue null, Page S88. DOI: http://dx.doi.org/10.1016/j.gaitpost.2011.10.331

Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson’s disease

Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson’s disease. Mi Jin Kim, Dae Won Kim, Hoon Jae Jeong, Eun Jeong Sohn, Min Jea Shin, Eun Hee Ahn, Soon Won Kwon, Young Nam Kim, Duk-Soo Kim, Jinseu Park, Won Sik Eum, Hyun Sook Hwang, Soo Young Choi. Biochimie, , Available online 14 July 2012. http://dx.doi.org/10.1016/j.biochi.2012.07.005

 Keywords: Frataxin, MPTP, Parkinson’s disease, Protein transduction domain, reactive oxygen species, dopaminergic neurons, blood brain barrier (BBB).

Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs)

Role of mismatch repair enzymes in GAA-TTC triplet-repeat expansion in Friedreich's ataxia induced pluripotent stem cells (iPSCs) . Jintang Du, Erica Campau, Elisabetta Soragni, Sherman Ku, James W. Puckett, Peter B. Dervan and Joel M. Gottesfeld. J. Biol. Chem. jbc.M112.391961. First Published on July 13, 2012, doi:10.1074/jbc.M112.391961

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Therapeutic Developments in Friedreich Ataxia

Therapeutic Developments in Friedreich Ataxia. Wilson RB, J Child Neurol 2012 Jul 12. doi: 10.1177/0883073812449691.

Keywords: Friedreich ataxia, neuro- and cardiodegenerative disorder, no approved therapy, frataxin, iron, oxidative stress, mitochondrial dysfunction.

DNA mismatch repair complex MutSbeta promotes GAA·TTC repeat expansion in human cells

DNA mismatch repair complex MutSbeta promotes GAA·TTC repeat expansion in human cells. Anasheh Halabi, Scott Ditch, Jeffrey Wang and Ed Grabczyk. The American Society for Biochemistry and Molecular Biology. Jbc, First Published on July 11, 2012, doi: 10.1074/jbc.M112.356758

Keywords: Friedreich Ataxia (FRDA), GAA·TTC repeat expansion, complex MutSbeta, MSH3 subunit, potential therapeutic target.

Gene therapy matures in the clinic

Gene therapy matures in the clinic. Leonard W Seymour & Adrian J Thrasher. Nature Biotechnology 30, 588–593 (2012) doi:10.1038/nbt.2290 Published online 10 July 2012.

Highlight: "will soon enter into mainstream medicine."

A functional MRI study of motor dysfunction in Friedreich's ataxia

A functional MRI study of motor dysfunction in Friedreich's ataxia. H. Akhalghi, L. Corben, N. Georgiou-Karistianis, J. Bradshaw, M.B. Delatycki, E. Storey, G.F. Egan. Brain Research, Available online 3 July 2012. http://dx.doi.org/10.1016/j.brainres.2012.06.035

Keywords: Friedreich's ataxia, Cerebellum, Finger tapping, proximal spinal cord, cortico-cerebellar, cortico-striatal, parieto-frontal.

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research .Payne RM, Wagner GR. J Child Neurol 0883073812448535, July 4, 2012. doi: 10.1177/0883073812448535

Keywords: Friedreich ataxia, frataxin protein, iron-binding protein, mitochondrial matrix, mitochondrial oxidant stress, hypertrophic cardiomyopathy, heart failure.

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia.

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia. Soragni E, Xu C, Plasterer HL, Jacques V, Rusche JR, Gottesfeld JM. J Child Neurol. 2012 Jul 4. [Epub ahead of print]

Keywords: histone deacetylase inhibitors, neurodegenerative diseases, 2-aminobenzamides, frataxin (FXN) gene, Friedreich ataxia.

miR-886-3p Levels Are Elevated in Friedreich Ataxia

miR-886-3p Levels Are Elevated in Friedreich Ataxia. Lata H. Mahishi, Ronald P. Hart, David R. Lynch, and Rajiv R. Ratan. The Journal of Neuroscience, 4 July 2012, 32(27): 9369-9373; doi: 10.1523/​JNEUROSCI.0059-12.2012.

Keywords: Friedreich ataxia (FRDA), frataxin (FXN) gene, FXN RNA and protein levels, Small noncoding RNAs, hsa-miR-886-3p (miR-886-3p), novel therapeutic approach, anti-miR-886-3p.

The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia.

The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia. Eigentler A, Rhomberg J, Nachbauer W, Ritzer I, Poewe W, Boesch S.

Keywords: Dysarthria, neurogenic sensorimotor speech symptom, Frenchay Dysarthria Assessment, clinical and logopedic methodology, excellent clinical tool, ataxic speech disorders.

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma . Deutsch EC, Seyer LA, Perlman SL, Yu J, Lynch DR. J Child Neurol 0883073812448460, first published on June 29, 2012 as doi:10.1177/0883073812448460

Keywords:  Friedreich ataxia, FXN, frataxin, lateral flow immunoassay, MAP chemotherapy.

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects.

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects.Schadt KA, Friedman LS, Regner SR, Mark GE, Lynch DR, Lin KY.J Child Neurol 0883073812448461, first published on June 29, 2012 as doi:10.1177/0883073812448461

Keywords:  Electrocardiographic (ECG) findings, Friedreich ataxia, ECG abnormalities, age, sex, shorter guanine-adenine-adenine triplet repeat length, age of disease onset, functional disability, nonspecific ST-T wave changes (53%), right axis deviation (32%), left ventricular hypertrophy (19%), right ventricular hypertrophy (13%).

Friedreich Ataxia: New Pathways.

Friedreich Ataxia: New Pathways.Pandolfo M., J Child Neurol 0883073812448534, first published on June 29, 2012 as doi:10.1177/0883073812448534

Keywords:  Friedreich ataxia, frataxin, neurologic, cardiac complications, mitochondrial biogenesis, iron-sulfur cluster synthesis, iron metabolism, antioxidant responses, mitophagy.

Cardiac Transplantation in Friedreich Ataxia

Cardiac Transplantation in Friedreich Ataxia. Yoon G, Soman T, Wilson J, George K, Mital S, Dipchand AI, McCabe J, Logan W, Kantor P. J Child Neurol 0883073812448229, first published on June 29, 2012 as doi:10.1177/0883073812448229

Keywords:  Friedreich ataxia, cardiac transplantation, left ventricular failure, dilated cardiomyopathy, neurological disease, dysarthria, weakness, mild gait impairment, limb ataxia, ethical issues.

Novel Diagnostic Paradigms for Friedreich Ataxia

Novel Diagnostic Paradigms for Friedreich Ataxia.. Brigatti KW, Deutsch EC, Lynch DR, Farmer JM., J Child Neurol 0883073812448440, first published on June 29, 2012 as doi:10.1177/0883073812448440

Keywords: Friedreich ataxia, lateral-flow immunoassay, quantify the frataxin protein, biomarker for clinical trials, gene dosage analysis.

Clinical Features of Friedreich Ataxia.

Clinical Features of Friedreich Ataxia. Martin B. Delatycki and Louise A. Corben. J Child Neurol 0883073812448230, first published on June 29, 2012 as doi:10.1177/0883073812448230

Keywords: Friedreich ataxia, FXN, central and peripheral nervous system, progressive ataxia, absent lower limb reflexes, upgoing plantar responses, peripheral sensory neuropathy, cardiomyopathy, diabetes mellitus.

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants Sean R. Regner, Nicholas S. Wilcox, Lisa S. Friedman, Lauren A. Seyer, Kim A. Schadt, Karlla W. Brigatti, Susan Perlman, Martin Delatycki, George R. Wilmot, Christopher M. Gomez, Khalaf O. Bushara, Katherine D. Mathews, S. H. Subramony, Tetsuo Ashizawa, Bernard Ravina, Alicia Brocht, Jennifer M. Farmer, and David R. Lynch. J Child Neurol 0883073812448462, first published on June 29, 2012 doi:10.1177/0883073812448462

Keywords: Friedreich ataxia, ataxia, dysarthria, areflexia, large international noninterventional cohort (n = 410), Friedreich Ataxia Rating Scale.

Auditory Processing Deficits in Children With Friedreich Ataxia.

Auditory Processing Deficits in Children With Friedreich Ataxia. Rance G, Corben L, Delatycki M. J Child Neurol June 29, 2012 0883073812448963

Keywords: Friedreich ataxia, auditory neuropathy, personal FM-listening systems, auditory function tests.

Surgical treatment of neuromuscular scoliosis: current techniques.

Surgical treatment of neuromuscular scoliosis: current techniques.Greggi T, Lolli F, Di Silvestre M, Martikos K, Vommaro F, Maredi E, Giacomini S, Baioni A, Cioni A. Stud Health Technol Inform. 2012;176:315-8.

Keywords: posterior only instrumented fusion, cerebral palsy (13 cases), Duchenne muscular dystrophy (7), spinal amyotrophy (7), myelomeningocele (5), poliomyelitis (3), Friedreich's ataxia (2), Escobar syndrome (2), Steinert's disease (1), Charcot Marie Tooth disease (1), safe and effective procedure, limited respiratory function.

DNA triplex structures in neurodegenerative disorder, Friedreich’s ataxia

DNA triplex structures in neurodegenerative disorder, Friedreich’s ataxia. Moganty R Rajeswari. J. Biosci. 37 1–14] DOI 10.1007/s12038-012-9219-1.

Keywords: DNA triple helix, Friedreich’s ataxia, (GAA) repeats, triplet repeat expansion (TRE),(R∙R*Y) type of triplex, neurodegenerative disorder.

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial. Lynch, D. R., Willi, S. M., Wilson, R. B., Cotticelli, M. G., Brigatti, K. W., Deutsch, E. C., Kucheruk, O., Shrader, W., Rioux, P., Miller, G., Hawi, A. and Sciascia, T. Mov. Disord.. doi: 10.1002/mds.25058.

Keywords: A0001 (α-tocopheryl quinone; EPI-A0001), potent antioxidant, in vitro measures, glucose metabolism, neurological function, Friedreich ataxia, in vitro study, double-blind, randomized, placebo-controlled trial, disposition Index, diabetic tendency, glucose tolerance test, Friedreich Ataxia Rating Scale.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. Dis Model Mech. 2012 Jun 26. [Epub ahead of print]

Keywords: Friedreich's ataxia (FRDA),  cancer, neoplasia, USA, Australia and Europe.

Oxidative stress inhibits axonal transport: implications for neurodegenerative diseases

Oxidative stress inhibits axonal transport: implications for neurodegenerative diseases. Cheng Fang, Dennis Bourdette and Gary Banker. Molecular Neurodegeneration 2012, 7:29 doi:10.1186/1750-1326-7-29. Published: 18 June 2012

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 "These results indicate that inhibition of axonal transport is an early consequence of exposure to ROS and may contribute to subsequent axonal degeneration."

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells. Sophie Lefevre, Caroline Brossas, Françoise Auchère, Nicole Boggetto, Jean-Michel Camadro, and Renata Santos. Hum. Mol. Genet. first published online June 16, 2012 doi:10.1093/hmg/dds230

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KEYWORDS: Frataxin-deficiency, mitochondrial dysfunction, oxidative stress, Friedreich ataxia, respiratory deficit, disturbed iron homeostasis, sensitivity to oxidants, Apn1 enzyme, DNA damage.

Iron and neurodegeneration: from cellular homeostasis to disease.

Iron and neurodegeneration: from cellular homeostasis to disease. Batista-Nascimento L, Pimentel C, Andrade Menezes R, Rodrigues-Pousada C.Oxid Med Cell Longev. 2012;2012:128647. Epub 2012 May 30.

 Keywords: Accumulation of iron (Fe), neurodegenerative diseases, Parkinson's, Alzheimer's, Huntington's diseases, Friedreich's ataxia, neuroferritinopathy, Fe misregulation, oxidative stress, therapeutic strategies, metalloneurobiology.

A generalizable pre-clinical research approach for orphan disease therapy

A generalizable pre-clinical research approach for orphan disease therapy. Review. Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, MacKenzie AE. Orphanet Journal of Rare Diseases 2012, 7:39 (15 June 2012).

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Stem Cell Therapy Shows Prospects For Severe Neurological Diseases

ENS 2012. "Stem Cell Therapy Shows Prospects For Severe Neurological Diseases." Medical News Today. MediLexicon, Intl., 13 Jun. 2012. Web.

 "There are a number of highly promising research findings today, which could pave the way to completely new types of stem cell therapies for severe neurological diseases"  

At the moment, there is one central message for neurological patients: These therapies are still in an experimental stage.

Complete FXN Deletion in a Patient with Friedreich's Ataxia

Complete FXN Deletion in a Patient with Friedreich's Ataxia . Ans M.W. van den Ouweland, Rick van Minkelen, Galhana M. Bolman, Cokkie H. Wouters, Cindy Becht-Noordermeer, Wout H. Deelen, J. Marianne C. Deelen–Manders, Elly P.F. Ippel, Jasper Saris, and Dicky J.J. Halley. Genetic Testing and Molecular Biomarkers. -Not available-, ahead of print. doi:10.1089/gtmb.2012.0012.

Keywords: Friedreich's ataxia (FRDA), homozygous, GAA repeat expansion, FXN, heterozygous, point mutation, intragenic FXN deletion.

Nanotechnology—novel therapeutics for CNS disorders

Nanotechnology—novel therapeutics for CNS disorders, Review. Maya Srikanth & John A. KesslerNature Reviews Neurology 8, 307-318 (June 2012) | doi:10.1038/nrneurol.2012.76

Keywords: CNS disorders, Nanotechnology, blood–brain barrier, target specific cell, vehicles for gene delivery, promote axon elongation, support cell survival, neurodegenerative disease, malignant brain tumours, neuroregeneration.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB.J Neurol. 2012 Jun 6. Keywords: clinical endpoints, Friedreich ataxia, dysarthria, ANOVA, acoustic measures, utterance duration, spectral changes.

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression,Tom Latham, Logan Mackay, Duncan Sproul, Muhammed Karim, Jayne Culley, David J Harrison, Larry Hayward, Pat Langridge-Smith, Nick Gilbert and Bernard H Ramsahoye. Nucl. Acids Res. (2012) 40 (11): 4794-4803. doi: 10.1093/nar/gks066

Stem cell research: Regulating translational application

Stem cell research: Regulating translational application. Nature Cell Biology 14, 557 (2012), doi:10.1038/ncb2517. Published online 30 May 2012

Keywords: stem cell research, regenerative medicine, to cure diseases, basic research, translational potential, clinical trials, adult mesenchymal stem cells, China unapproved stem cell treatments, X-Cell Center in Germany.

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy, B. Miguel, A. Hernández, J. Domínguez, C. Valencia, A. López, M.A. Del Real (Ciudad Real, ES). 22nd Meeting of the European Neurological Society, 09.06.2012 - 12.06.2012 General neurology I, Sunday, June 10, 2012, 11:30 - 12:30

Keyword: Friedreich Ataxia (FA), autosomal recessive inheritance, expanded trinucleotide (GAA) repeat, frataxin gene, neurologic dysfunction, cardiomyopathy, diabetes mellitus.

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias, V. Milic Rasic,S. Todorovic, V. Brankovic,I. Novakovic,J. Baets, S. Vermeer. Clinical Neurophysiology, Volume 123, Issue 7 , Page e78, July 2012.

No abstract is available.

Therapies in inborn errors of oxidative metabolism

Therapies in inborn errors of oxidative metabolism. Manuel Schiff, Paule Bénit, Howard T. Jacobs, Jerry Vockley and Pierre Rustin. Trends in Endocrinology & Metabolism, 29 May 2012, doi:10.1016/j.tem.2012.04.006.

Keywords: Mitochondrial diseases, mitochondrial dysfunction, 2000 genes, epigenetic and environmental factors, decreased ATP, targets and mechanism of action.

"The manifestations of mitochondrial dysfunction and the response to therapy vary between individuals". This statement by the authors of the paper shows perfectly the great difficulty of the FA's therapeutic approach, and may explain why do not exist two patients who progress in the same way, even siblings.