An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. Eppie M. Yiu, Geneieve Tai, Roger E. Peverill, Katherine J. Lee, Kevin D. Croft, Trevor A. Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P. Vogel, Gary Rance, Sarah E. M. Stephenson, Joseph P. Sarsero, Creina Stockley, Chung-Yung J. Lee, Andrew Churchyard, Marguerite V. Evans-Galea, Monique M. Ryan, Paul J. Lockhart, Louise A. Corben, Martin B. Delatycki; Journal of Neurology, April 2015 DOI 10.1007/s00415-015-7719-2

Effect of mental fatigue on speed-accuracy trade-off

Effect of mental fatigue on speed-accuracy trade-off. Vianney Rozand, Florent Lebon, Charalambos Papaxanthis, Romuald Lepers, Neuroscience, Available online 4 April 2015, ISSN 0306-4522, http://dx.doi.org/10.1016/j.neuroscience.2015.03.066.

Previous studies suggested that the speed-accuracy trade-off is altered in specific cases, e.g., the patients with Friedreich ataxia that alter motor coordination but not cognitive functions (Corben et al., 2011) or the elderly (Sleimen-Malkoun et al., 2013). In these populations, movement duration was slowed compared to healthy young subjects, especially for higher difficulties.

Autophagy in neurodegenerative diseases: from pathogenic dysfunction to therapeutic modulation

Autophagy in neurodegenerative diseases: from pathogenic dysfunction to therapeutic modulation. Marta Martinez-Vicente, Seminars in Cell & Developmental Biology, Available online 2 April 2015, ISSN 1084-9521, http://dx.doi.org/10.1016/j.semcdb.2015.03.005.

Autophagic dysfunction has been described in many neurodegenerative diseases, ranging from Alzheimer’s disease (AD), to Parkinson’s disease (PD), Huntington’s disease (HD), amyotrophic lateral sclerosis (ALS), Friedreich's ataxia and others. Failure of the autophagic process may thus be one of the factors contributing to neuronal cell death

Risk of Heart Failure and Death Among Patients With Friedreich Ataxia Admitted for Non-Cardiac Etiologies

Risk of Heart Failure and Death Among Patients With Friedreich Ataxia Admitted for Non-Cardiac Etiologies. K.Y. Lin, D. Lynch, M.J. O’Connor, J. Rossano, The Journal of Heart and Lung Transplantation, Volume 34, Issue 4, Supplement, April 2015, Page S186, ISSN 1053-2498, http://dx.doi.org/10.1016/j.healun.2015.01.508.

Metabolic approaches to Friedreich ataxia

Project Information: Metabolic approaches to Friedreich ataxia. LYNCH, DAVID ROBINSON, Recieved:02-Apr-2015

Project Information

PUBLIC HEALTH RELEVANCE: The present proposal will investigate the metabolic causes of the disease Friedreich ataxia, concentrating on fatty acid metabolism. If successful, this will lea to new treatments for the disorder and new ways to follow the disease.

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia. Juan A. Navarro, Jose A. Botella, Christoph Metzendorf, Maria I. Lind, Stephan Schneuwly, Free Radical Biology and Medicine, Available online 2 April 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2015.03.014.

Friedreich's ataxia – a case of aberrant transcription termination?

Friedreich's ataxia – a case of aberrant transcription termination?. Jill Sergesketter Butler & Marek Napierala; Transcription. 2015 Apr 1:0. DOI:10.1080/21541264.2015.1026538

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia. Maria R. Stefanescu , Moritz Dohnalek , Stefan Maderwald , Markus Thürling , Martina Minnerop , Andreas Beck , Marc Schlamann , Joern Diedrichsen , Mark E. Ladd , Dagmar Timmann
Brain. 2015 Mar 28, DOI: http://dx.doi.org/10.1093/brain/awv064 First published online: 28 March 2015

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells. Ana M. Silva, Jill M. Brown, Veronica J. Buckle, Richard Wade-Martins and Michele M.P. Lufino; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv096 First published online: March 26, 2015

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia. GlobeNewswire, March 26, 2015 Source: BioBlast Pharma.

In in-vitro studies performed in Friedreich's Ataxia patients' cells, BB-FA successfully penetrated the mitochondria and restored the damaged mitochondrial functions to close to normal levels
In two different mouse models, BB-FA rescued both brain and heart tissues, returning their activity to near normal function. BB-FA induced weight gain, prevented the development of heart disease (commonly the cause of death in Friedreich's Ataxia patients) and increased survival.