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

Editorial-full text

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.

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

Experts From Government, Industry, Patient Advocacy to Speak at U.S. Conference on Rare Diseases and Orphan Products

WASHINGTON, Sept. 28, 2012 /PRNewswire-USNewswire/ -- Patient advocates, industry leaders, medical researchers, government professionals and investors will address together "Shaping the Future Now" at the 2nd annual U.S. Conference on Rare Diseases and Orphan Products in Washington, DC October 22 – 24

Ronald J. Bartek, President / Director / Co-founder, Friedreich's Ataxia Research Alliance is one of the speakers.

"It is unique in that it draws together all stakeholders to address the shared challenge - how to accelerate the development of safe, effective treatments for people with rare diseases."

Protein Stability and Dynamics Modulation: The Case of Human Frataxin

Protein Stability and Dynamics Modulation: The Case of Human Frataxin. Roman EA, Faraj SE, Gallo M, Salvay AG, Ferreiro DU, et al., PLoS ONE 7(9): e45743. doi:10.1371/journal.pone.0045743 (2012)

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Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases

Strategies to stimulate motor learning during vocal therapy in neurodegenerative diseases,  Estrategias para potenciar el aprendizaje motor en el tratamiento vocal de las enfermedades neurodegenerativas. Rosa M. Bermúdez de Alvear, A. Ginés Martínez Arquero;Revista de Logopedia, Foniatría y Audiología, Available online 24 September 2012

Language ESP

Keywords: Motor learning, Speech motor control, Treatment efficacy, Parkinson's disease, Outcomes generalization, Voice loudness, Neurodegenerative diseases, Lee Silverman voice treatment.

Palabras clave: Aprendizaje motor, Control motor del habla, Eficacia terapéutica, Enfermedad de Parkinson, Generalización de resultados, Intensidad vocal, Enfermedades neurodegenerativas, Tratamiento vocal intensivo.

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease

Friedreich ataxia: more than a mitochondrial iron-sulfur cluster assembly disease. Dr Pierre Rustin. IBT and TGPBB International Seminars, Tampereen yliopisto (Finland)

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway

Understanding Friedreich's Ataxia: Insight into the Fe-S Cluster Biogenesis Pathway. Andria Rodrigues, Jeremy Cook, Andrew Dancis, Timothy Stemmler. Wayne State University, School of medicine, Graduate Student Research Day (GSRD-XVI), Setember, 27/2012

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The Second Annual EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies) Newsletter EFACTS NEWS

TheSecond Annual EFACTS (European Friedreich’s Ataxia Consortium forTranslational Studies) Newsletter EFACTS NEWS