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.

Phonological markers of sentence stress in ataxic dysarthria and their relationship to perceptual cues

Phonological markers of sentence stress in ataxic dysarthria and their relationship to perceptual cues.Anja Lowit, Anja Kuschmann, Kimberley Kavanagh,Journal of Communication Disorders, Available online 12 April 2014, ISSN 0021-9924, http://dx.doi.org/10.1016/j.jcomdis.2014.03.002.

Keywords: Ataxic dysarthria; Stress; Intonation; Phonology; Phonetics

Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited

Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited. J. Schwabova, T. Maly, J. Laczo, A. Zumrova, V. Komarek, Z. Musova, F. Zahalka, Journal of the Neurological Sciences, Available online 12 April 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.04.001.

Keywords: Friedreich´s ataxia; Autosomal dominant spinocerebellar ataxia; SARA; FARS; clinical rating scale; posturography

The Use of a Trained Dog as a Gait Aid for Clients with Ataxia: A Case Report

The Use of a Trained Dog as a Gait Aid for Clients with Ataxia: A Case Report. Gabriela Abbud, Caroline Janelle, Maria Vocos, Physiotherapy Canada, Volume 66, Number 1 / 2014, 33-35, DOI 10.3138/ptc.2013-17.

Keywords: animal assisted therapy, assistive device, ataxia, gait

Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia

Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia. Cenk Yasa, Ozlem Dural, Funda Gungor Ugurlucan, Ercan Bastu, Omer Demir, Samet Topuz; Archives of Gynecology and Obstetrics, May 2014, Volume 289, Issue 5, pp 1151-1153

ROLE OF MITOCHONDRIA IN NEURODEGENERATION OF PERIPHERAL NEUROPATHIES.

ROLE OF MITOCHONDRIA IN NEURODEGENERATION OF PERIPHERAL NEUROPATHIES.

Speaker: Aránzazu Bolinches
Date: 11/04/2014 - 13h
Place: Salón de Actos CIPF

AAVLife is a gene therapy company focused on developing treatments for rare diseases with great unmet medical need.

AAVLife is a gene therapy company focused on developing treatments for rare diseases with great unmet medical need.

AAVLife's lead indication is for Friedreich’s Ataxia Cardiomyopathy

The goal is to commence a clinical trial in 2015 to evaluate gene therapy for heart disease associated with Friedreich’s Ataxia. An observational study will be initiated in 2014 as a run-up to treating patients in a Phase I/II study.