Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues,Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, et al. (2012), PLoS ONE 7(10): e47085. doi:10.1371/journal.pone.0047085

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"It is tempting to speculate that Pms2 may serve as a genetic modifier of the disease phenotype in Friedreich ataxia."

Neurodegeneration as an RNA Disorder

Neurodegeneration as an RNA Disorder; Rory Johnson, Wendy Noble, Gian Gaetano Tartaglia, Noel J. Buckley; Progress in Neurobiology, Available online 10 October 2012

Keywords Neurodegeneration, neurodegenerative disease, non-coding RNA, Alzheimer's disease, Parkinson's disease, Huntington's disease, trinucleotide repeat disorder, BACE1, REST, long non-coding RNA, microRNA, HAR1, SOX2OT, mir-9, mir-132, mir-124.

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases; Johnson, William M.; Wilson-Delfosse, Amy L.; Mieyal, John. J.; Nutrients. 2012; 4(10):1399-1440.

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Keywords: glutathione; N-acetylcysteine; oxidative stress; redox signaling; neurodegenerative diseases; Friedreich's Ataxia; apoptosis; protein aggregation; glutathionylation; nitrosylation


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Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba

Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba. Cruz Mariño, Tania (2012). Tesis presentada en opción al grado científico de Doctor en ciencias médicas. Universidad de ciencias médicas de La Habana.

Palabras clave: Ataxia de Friedreich; Ataxias hereditarias; Epidemiología; Diagnóstico; Clínica; Análisis Molecular; Estudio Descriptivo Transversal; Gen de Ataxia de Friedreih; Cuba

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Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons; Carolina Franco, Silvia Fernandez and Ignacio Torres Aleman; Molecular Neurodegeneration 2012, 7:51 doi:10.1186/1750-1326-7-51 Published: 5 October 2012

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KEYWORDS: Friedreich s ataxia (FRDA), frataxin (Fxn), insulin-like growth factor I (IGF-I), neurons, astrocytes, Akt/mTOR signaling pathway.

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia.
Gary Rance, Louise A. Corben and Martin B. Delatycki; Journal of Neurology 2012, DOI: 10.1007/s00415-012-6679-z.

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy ; Dimitrios Stergios Evangelopoulos, Tatiana Nataly Pirvu, Aristomenis Exadaktylos, Sandro Kohl; BMJ Case Reports published online 3 October 2012, doi:10.1136/bcr-2012-006550

Keywords: Friedreich's ataxia, inflammatory parameters, elevated troponin, B-type natriuretic peptide, proteinuria, thromboembolic kidney infarction, lifelong oral anticoagulation.

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return; Cardiopatía dilatada en ataxia de Friedreich: el punto sin retorno; Luis E. Silva, MD., Leidy P. Prada, MD., Hugo Páez, MD., Andrés F. Buitrago, MD., Carlos Franco, MD., Robinson Sánchez, MD., Iván Rendón, MD.; Rev Colomb Cardiol 2012; 19: 100-104.

Language Spanish

KEYWORDS: Friedreich’s ataxia, infi ltrative heart disease, dilated cardiomyopathy, idebenone.

PALABRAS CLAVE: ataxia de Friedreich, cardiopatías infi ltrativas, cardiomiopatía dilatada, idebenona.

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union; Seppo Ylä-Herttuala. Molecular Therapy (2012); 20 10, 1831–1832. doi:10.1038/mt.2012.194

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Despite these problems and difficulties, the final opinion in favor of Glybera is encouraging news for the gene and cell therapy communities, and hopefully evaluation of the twists and turns of the plot of this saga will help to streamline the regulatory processes of other gene and cell therapy products so that this new area of medicine can eventually fulfill its promise in human medicine

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Francis G. Blankenberg, Stephen L. Kinsman, Bruce H. Cohen, Michael L. Goris, Kenneth M. Spicer, Susan L. Perlman, Elliot J. Krane, Viktoria Kheifets, Martin Thoolen, Guy Miller, Gregory M. Enns, Molecular Genetics and Metabolism, Available online 28 September 2012.

KEYWORDS: Biomarkers, HMPAO, mitochondrial disease, EPI-743, redox, SPECT, Leigh syndrome, polymerase γ deficiency, MELAS, Friedreich ataxia, Kearns–Sayre syndrome, Pearson syndrome, mtDNA depletion syndrome.