Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB.J Neurol. 2012 Jun 6. Keywords: clinical endpoints, Friedreich ataxia, dysarthria, ANOVA, acoustic measures, utterance duration, spectral changes.

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression,Tom Latham, Logan Mackay, Duncan Sproul, Muhammed Karim, Jayne Culley, David J Harrison, Larry Hayward, Pat Langridge-Smith, Nick Gilbert and Bernard H Ramsahoye. Nucl. Acids Res. (2012) 40 (11): 4794-4803. doi: 10.1093/nar/gks066

Stem cell research: Regulating translational application

Stem cell research: Regulating translational application. Nature Cell Biology 14, 557 (2012), doi:10.1038/ncb2517. Published online 30 May 2012

Keywords: stem cell research, regenerative medicine, to cure diseases, basic research, translational potential, clinical trials, adult mesenchymal stem cells, China unapproved stem cell treatments, X-Cell Center in Germany.

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy, B. Miguel, A. Hernández, J. Domínguez, C. Valencia, A. López, M.A. Del Real (Ciudad Real, ES). 22nd Meeting of the European Neurological Society, 09.06.2012 - 12.06.2012 General neurology I, Sunday, June 10, 2012, 11:30 - 12:30

Keyword: Friedreich Ataxia (FA), autosomal recessive inheritance, expanded trinucleotide (GAA) repeat, frataxin gene, neurologic dysfunction, cardiomyopathy, diabetes mellitus.

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias, V. Milic Rasic,S. Todorovic, V. Brankovic,I. Novakovic,J. Baets, S. Vermeer. Clinical Neurophysiology, Volume 123, Issue 7 , Page e78, July 2012.

No abstract is available.

Therapies in inborn errors of oxidative metabolism

Therapies in inborn errors of oxidative metabolism. Manuel Schiff, Paule Bénit, Howard T. Jacobs, Jerry Vockley and Pierre Rustin. Trends in Endocrinology & Metabolism, 29 May 2012, doi:10.1016/j.tem.2012.04.006.

Keywords: Mitochondrial diseases, mitochondrial dysfunction, 2000 genes, epigenetic and environmental factors, decreased ATP, targets and mechanism of action.

"The manifestations of mitochondrial dysfunction and the response to therapy vary between individuals". This statement by the authors of the paper shows perfectly the great difficulty of the FA's therapeutic approach, and may explain why do not exist two patients who progress in the same way, even siblings.

Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples.

Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples.[Article in Hungarian] Kisfali P, Melegh B. Orv Hetil. 2012 Jun 1;153(22):852-5.

Keywords:  frataxin,  molecular genetic diagnosis, Friedreich's ataxia, blood samples.

An Open Label Clinical Pilot Study of Resveratrol as a Treatment for Friedreich Ataxia

An Open Label Clinical Pilot Study of Resveratrol as a Treatment for Friedreich Ataxia 13th Asian Oceanian Congress of Neurology, 4–8 June 2012, Melbourne Convention and Exhibition Centre, Melbourne, Australia
Keywords: Friedreich ataxia (FRDA), mitochondrial protein frataxin, Resveratrol, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels.

Neuron Function Restored in Brains Damaged by Huntington's Disease

Neuron Function Restored in Brains Damaged by Huntington's Disease Van Andel Research Institute (2012, May 29). Neuron function restored in brains damaged by Huntington's disease. ScienceDaily. Retrieved

ScienceDaily (May 29, 2012) — Researchers from South Korea, Sweden, and the United States have collaborated on a project to restore neuron function to parts of the brain damaged by Huntington's disease (HD) by successfully transplanting HD-induced pluripotent stem cells into animal models.

It is always good to look the advances in neurodegenerative diseases more frequents than FA, a long way is needed to became a human therapy, but neuroscience and cell biology are progressing rapidly

Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia.

Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia. Int J Cardiol. 2012 May 25. [Epub ahead of print]. Friedman LS, Schadt KA, Regner SR, Mark GE, Lin KY, Sciascia T, St John Sutton M, Willi S, Lynch DR.

Keywords: Friedreich ataxia, ataxia, dysarthria, areflexia, cardiomyopathy, cardiac troponin I, acute myocardial infarction, echocardiogram parameters, ejection fraction, electrocardiograms.