Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann, Parkinsonism & Related Disorders, Available online 26 April 2014, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2014.04.018.

Keywords: Friedreich Ataxia; Point Mutation; Disease Progression; Hemochromatosis; Genetic Counseling

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia. Nathaniel R. Greeley, Sean Regner, Steve Willi, David R. Lynch, Journal of the Neurological Sciences, Available online 24 April 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.04.015.

Keywords: Metabolism; diabetes; mitochondria; triplet repeat

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F and Gonzalez-Cabo P; Front. Cell. Neurosci. 8:124. doi: 10.3389/fncel.2014.00124

Keywords: Friedreich Ataxia, frataxin, Mitochondrial dysfunction, cellular senescence, Autophagy, calcium metabolism, ER-stress

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Cell and gene therapy for Friedreich ataxia - progress to date.

Cell and gene therapy for Friedreich ataxia - progress to date. Evans-Galea MV, Pebay A, Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB.; Hum Gene Ther. 2014 Apr 21.

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial. David Jacoby, James Rusche, Marco Iudicello, Stefania De Mercanti, Marinella Clerico, Marco Gibbin, Filomena Longo, Wenyan Miao, Myriam Rai, Antonio Piga, Massimo Pandolfo, and Luca Durelli; April 30, 2014 - Plenary - Contemporary Clinical Issues Plenary Session, Neurology April 8, 2014 vol. 82 no. 10 Supplement PL1.003

Chronochemistry in neurodegeneration

Chronochemistry in Neurodegeneration. Annalisa Pastore and Salvatore Adinolfi; Front. Mol. Neurosci., 31 March 2014 | doi: 10.3389/fnmol.2014.00020

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Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement. Darren R. Hocking, Louise A. Corben, Joanne Fielding, Phillip D. Cremer, Lynette Millist, Owen B. White, Martin B. Delatycki; Brain and Cognition, Volume 87, May 2014, Pages 161-167, ISSN 0278-2626, http://dx.doi.org/10.1016/j.bandc.2014.03.018.

Keywords: Inherited ataxias; Cognition; Attention; Saccades; Cerebellum

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism. Èlia Obis, Verónica Irazusta, Daniel Sanchís, Joaquim Ros, Jordi Tamarit; Free Radical Biology and Medicine, Available online 18 April 2014, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.04.016.

Keywords: Friedreich ataxia; Mitochondria; Iron; Lipid metabolism; Oxidative stress

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia.

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia. Chutake YK et al J Biol Chem. 2014 Apr 15.

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AAVLife Raises $12 Million in Series A Financing to Advance Gene Therapy for Friedreich’s Ataxia

AAVLife Raises $12 Million in Series A Financing to Advance Gene Therapy for Friedreich’s Ataxia. April 15, 2014

PARIS--(BUSINESS WIRE)--AAVLife, a gene-therapy company focusing on rare diseases, today announced that it has raised $12 million in Series A financing to advance into clinical studies the promising work on Friedreich’s ataxia recently reported in Nature Medicine.