Vitamin E is essential for Purkinje neuron integrity

Vitamin E is essential for Purkinje neuron integrity. L. Ulatowski, R. Parker, G. Warrier, R. Sultana, D.A. Butterfield, D. Manor; Neuroscience, Available online 14 December 2013. http://dx.doi.org/10.1016/j.neuroscience.2013.12.001

Keywords: Vitamin E; Tocopherol; Purkinje neuron; Cerebellum; Ataxia; Oxidative stress

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells. Yee-Ki Lee, Philip Wing-Lok Ho, Revital Schick, Yee-Man Lau, Wing-Hon Lai, Ting Zhou, Yanhua Li, Kwong-Man Ng, Shu-Leung HO, Miguel Angel Esteban,
Ofer Binah, Hung-Fat Tse, Chung-Wah Siu; Pflügers Archiv - European Journal of Physiology, December 2013

Keywords: Friedreich ataxia (FRDA), hypertrophic cardiomyopathy, frataxin, FRDA-cardiac cellular models, iron homeostasis, calcium homeostasis, contractile force.

REGIONAL SIDEROSIS: A NEW CHALLENGE FOR IRON CHELATION THERAPY

REGIONAL SIDEROSIS: A NEW CHALLENGE FOR IRON CHELATION THERAPY. Cabantchik Zvi Ioav, Munnich Arnold, Youdim Moussa B., Devos David; Frontiers in Pharmacology, Paper pending published: 09 Dec 2013

Keywords: Iron, chelation, neurodegeneration, Anemia, Friedreich Ataxia, Parkinson Disease, deferiprone

Italy blocks controversial stem cell therapy

Italy blocks controversial stem cell therapy. Nature Biotechnology 31, 1062 (2013); doi:10.1038/nbt1213-1062a
Published online 06 December 2013

The Italian government withdrew its support for a controversial stem cell therapy trial before it was due to start, prompting an outcry from patients. The decision was announced by Health Minister Beatrice Lorenzin on October 10, after an ad hoc scientific committee deemed the treatment too risky and undefined. In…

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us "

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us ". IRB Barcelona in the media

Meritxell Teixidó, research associate with the Peptides and Proteins group lead by Ernest Giralt, is interviewed on Radio 4 about the gene therapy project on Friedreich's Ataxia that has just started in collaboration between IRB Barcelona and CBMSO in Madrid. This project is financed by donations through the Genefa Platform and two other patients' organizations, in an iniatitive lead by these associations.

Listen to the interview with Meritxell Teixidó here L'Observatori (from minute 13.50 to minute 21.55)(CAT)

A Patient’s Journey: Friedreich ataxia

A Patient’s Journey: Friedreich ataxia. Peter Gibilisco, research fellow, patient, Adam P Vogel, senior research fellow; BMJ 2013; 347 doi: http://dx.doi.org/10.1136/bmj.f7062 (Published 3 December 2013)

This patient describes his experience of Friedreich ataxia, from diagnosis at 14 years old to being confined to a wheelchair for nearly 30 years and developing serious problems with speech and swallowing.

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Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions

Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions . Gavin Daker-White, John Ealing, Julie Greenfield, Helen Kingston, Caroline Sanders, Katherine Payne; SAGE Open Medicine January - December 2013 vol. 1 2050312113505560

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Foundation-Industry Relationships - A New Business Model Joint-Venture Philanthropy in Therapy Development.

Foundation-Industry Relationships - A New Business Model Joint-Venture Philanthropy in Therapy Development. Ronald J. Bartek, Curr Top Med Chem. 2013 Nov 27.

Keywords: business model, medical therapy development, academic scientists, government agencies, foundations, biotechs, small biopharmaceutical entities, larger industry companies patient-advocacy community, joint-venture philanthropy.

Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia.

Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia.Dağ E, Ornek N, Ornek K, Erbahçeci-Timur IE; J Neuroophthalmol. 2013 Nov 25.

Clinical Trial: 3D Gait Analysis Participants Needed

Clinical Trial: 3D Gait Analysis Participants Needed. Center for Gait and Movement Analysis Lab at the Children's Hospital Colorado. COMIRB Protocol Number: 13-1857


This study plans to learn more about the coordination of how people without a walking pathology and people who are typically developing or normal walk in response to various conditions using motion capture technology at the Center for Gait and Movement Analysis Lab.

Eligibility Criteria: .../... Diagnosis of either Friedreich's or spinocerebellar ataxia .../...