Friedreich ataxia: New findings, new challenges

Friedreich ataxia: New findings, new challenges. David R. Lynch M.D., PhD and Lauren Seyer MS; Annals of Neurology, Accepted manuscript online: 27 AUG 2014 01:36AM EST | DOI: 10.1002/ana.24259

Scientists map the ‘editing marks’ on fly, worm, human genomes

Scientists map the ‘editing marks’ on fly, worm, human genomes. By Diana Lutz, NEWSROOM, Washington University in St. Louis. August 28, 2014

Comprehensive maps of these marks will allow them to test ways to safely restore marks altered by human disease

Epigenetic therapy for Friedreich's ataxia

Epigenetic therapy for Friedreich's ataxia;Elisabetta Soragni PhD, Wenyan Miao PhD, Marco Iudicello MD, David Jacoby MD, Stefania Demercanti M, Marinella Clerico MD, Filomena Longo MD, Antonio Piga MD, Sherman Ku PhD, Erica Campau BS, Jintang Du PhD, Pablo Penalver PhD1, Myriam Rai PhD Joseph C. Madara PhD, Kristopher Nazor PhD, Melinda O'Connor PhD, Anton Maximov PhD, Jeanne F. Loring PhD, Massimo Pandolfo MD, Luca Durelli MD, Joel M. Gottesfeld PhD and James R. Rusche PhD. Annals of Neurology, Accepted manuscript online: 27 AUG 2014 04:31AM EST | DOI: 10.1002/ana.24260

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Kaalak Reddy, Monika H.M. Schmidt, Jaimie M. Geist, Neha P. Thakkar, Gagan B. Panigrahi, Yuh-Hwa Wang and Christopher E. Pearson; Nucl. Acids Res. (2014) doi: 10.1093/nar/gku658 First published online: August 21, 2014

Open Access article distributed under the terms of the Creative Commons, FULL TEXT PDF

R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and Friedreich's ataxia.

Cerebellum involvement in cortical sensorimotor circuits for the control of voluntary movements

Cerebellum involvement in cortical sensorimotor circuits for the control of voluntary movements. Rémi D Proville, Maria Spolidoro, Nicolas Guyon, Guillaume P Dugué, Fekrije Selimi, Philippe Isope, Daniela Popa & Clément Léna; Nature Neuroscience 17, 1233–1239 (2014) doi:10.1038/nn.3773

Towards Understanding RNA-Mediated Neurological Disorders

Towards Understanding RNA-Mediated Neurological Disorders. Ranhui Duan, Sumeet Sharma, Qiuping Xia, Kathryn Garber, Peng Jin; Journal of Genetics and Genomics, Available online 23 August 2014, ISSN 1673-8527, http://dx.doi.org/10.1016/j.jgg.2014.08.003.

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R loops are enriched over FXN intron 1 in cells with Friedreich ataxia-associated repeat expansions, compared to control cells. The formation of R loops precedes the presence of heterochromatin marks but correlates with epigenetic silencing of FXN and FMR1 and may be involved in the recruitment of enzymes involved in heterochromatinization.

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content; K. Solbach, O. Kraff, M. Minnerop, A. Beck, L. Schöls, E.R. Gizewski, M.E. Ladd, D. Timmann; NeuroImage: Clinical, Available online 23 August 2014, ISSN 2213-1582, http://dx.doi.org/10.1016/j.nicl.2014.08.018.

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Applying in vivo MRI methods we could demonstrate significant atrophy of the DN in the presence of normal iron content. The findings suggest that relaxation rates are not reliable biomarkers in clinical trials evaluating the potential effect of FA therapy.

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients. (SIAMOC 2013 abstracts) M. Germanotta, M. Petrarca, S. Rossi, S. Carniel, E. Castelli, P. Cappa; Gait & Posture, Volume 40, Supplement 1, August 2014, Page S1, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2014.05.018.

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron. Rina Shimizu, Nguyen Ngoc Lan, Tran Tien Tai, Yuka Adachi, Asako Kawazoe, Anfeng Mu, Shigeru Taketani; Gene, Available online 23 August 2014, ISSN 0378-1119, http://dx.doi.org/10.1016/j.gene.2014.08.043.

Keywords: Frataxin; p53; Transcription; Heme biosynthesis; ALA; Cancerous cells

Study confirms close link between immune system and adult neurogenesis

Study confirms close link between immune system and adult neurogenesis. News Medical, Published on August 19, 2014.

these findings would stimulate a new area of research into immune therapies to target neurological diseases

More patients help drug companies pass valley of death - Indianapolis Business Journal

More patients help drug companies pass valley of death - Indianapolis Business Journal

But patient groups—especially those formed around rare and untreatable diseases—are indeed playing a crucial role in getting experimental drugs across the proverbial “valley of death”—where none of those deep-pocketed players want to put their money.

Intellect Neurosciences, Inc. Issues Letter to Shareholders - GlobeNewswire press release

Intellect Neurosciences, Inc. Issues Letter to Shareholders - GlobeNewswire press release

Shire is developing OX1 as a treatment for Friedreich's Ataxia and possibly other diseases for which OX1 may qualify for orphan drug designation.

Grant Alert: Hematopoietic Stem Cell-Based Therapy For Friedrich Ataxia (University Of California San Diego, La Jolla, United States)

Grant Alert: Hematopoietic Stem Cell-Based Therapy For Friedrich Ataxia (University Of California San Diego, La Jolla, United States). Project Leader: CHERQUI, STEPHANIE

The role of iron in neurodegenerative disorders: insights and opportunities with synchrotron light

The role of iron in neurodegenerative disorders: insights and opportunities with synchrotron light. Collingwood Joanna Frances, Davidson Mark Rogers, Front. Pharmacol., 19 August 2014 | doi: 10.3389/fphar.2014.00191

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Preimplantation genetic diagnosis for inherited neurological disorders

Preimplantation genetic diagnosis for inherited neurological disorders. Ilan Tur-Kaspa, Roohi Jeelani
& P. Murali Doraiswamy, Nature Reviews Neurology 10, 417–424 (2014), doi:10.1038/nrneurol.2014.84

Preimplantation genetic diagnosis (PGD) is an option for couples at risk of having offspring with an inherited debilitating or fatal neurological disorder who wish to conceive a healthy child.

The influence of the European paediatric regulation on marketing authorisation of orphan drugs for children

The influence of the European paediatric regulation on marketing authorisation of orphan drugs for children. Annemarie Rosan Kreeftmeijer-Vegter, Anthonius de Boer, Roselinda H van der Vlugt-Meijer and Peter J de Vries; Orphanet Journal of Rare Diseases 2014, 9:120 doi:10.1186/s13023-014-0120-x

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STATegics has identified CNS-available small molecule erythropoietin (EPO) Allomimetics that selectively activate the tissue-protective EPO receptor

STATegics has identified CNS-available small molecule erythropoietin (EPO) Allomimetics that selectively activate the
tissue-protective EPO receptor .

The compounds also demonstrate a favorable safety profile and penetrance to the brain at pharmacologically relevant concentrations, and are being investigated for treatment of PD, Friedreich’s ataxia, and acute kidney injury.

Electrochemical impedance sensor based on small molecule modified Au electrode for the recognition of a trinucleotide repeats

Electrochemical impedance sensor based on small molecule modified Au electrode for the recognition of a trinucleotide repeats .
Hanping He, Xiaoqian Peng, Min Huang, Gang Chang, Xiuhua Zhang and Shengfu Wang; Analyst, 2014, Accepted Manuscript,
DOI: 10.1039/C4AN00853G; Received 12 May 2014, Accepted 10 Aug 2014

The electrochemical impedance sensor provides the simple and rapid method to detect trinucleotide repeats without requiring labelling and immobilizations of DNA, making it promising for the early diagnosis of the neurodegenerative diseases

Deferiprone in Friedreich’s Ataxia: A six-month randomized controlled trial

Deferiprone in Friedreich’s Ataxia: A six-month randomized controlled trial. Massimo Pandolfo, Javier Arpa, Martin B. Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A. Tarnopolsky, Franco Taroni, Michael Spino and Fernando Tricta; Annals of Neurology, DOI: 10.1002/ana.24248. Accepted manuscript online: 11 AUG 2014 09:41AM EST | DOI: 10.1002/ana.24248

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools. Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki; J Neurol Neurosurg Psychiatry jnnp-2014-308022Published Online First: 11 August 2014 doi:10.1136/jnnp-2014-308022

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Yogesh K. Chutake, Christina Lam, Whitney N. Costello, Michael Anderson and Sanjay I. Bidichandani; Ann Neurol. http://dx.doi.org/10.1002/ana.24249; 2014

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia. Sunil Sahdeo, Brian Scott, Marissa McMackin, Mittal Jasoliya, Brandon Brown2, Heike Wulff, Sue Perlman, Mark Pook and Gino Cortopassi; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu408 First published online: August 11, 2014

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Monitoring mood states in everyday life: A new device for patients with cerebellar ataxia

Monitoring mood states in everyday life: A new device for patients with cerebellar ataxia, Silvia Clausi, Fabio Aloise, Maria P. Contento, Luigi Pizzamiglio, Marco Molinari, Maria Leggio; Psychiatry Research, Available online 1 August 2014, ISSN 0165-1781, http://dx.doi.org/10.1016/j.psychres.2014.07.051.


The preliminary data underscore the necessity to implement specific instruments to examine mood disorders in neurological patients. The MoMo device may be extremely valuable in clinical practice, allowing physicians to evaluate daily and weekly mood fluctuations during rehabilitation, pharmacological therapy, and psychotherapy, particularly in neurological patients.

AmorChem, Université Laval and CHU de Québec to collaborate on Friedreich’s Ataxia project

AmorChem, Université Laval and CHU de Québec to collaborate on Friedreich’s Ataxia project. by Biotechnology Focus • August 5, 2014 • Orphan drugs, Science Focus

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. Genki Hayashi, Yan Shen, Theresa L. Pedersen, John W. Newman, Mark Pook and Gino Cortopassi; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu407 First published online: August 7, 2014

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