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

 Full Text

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.