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Acta Neurol Belg. 2011 Sep;111(3):183-7.

Cardiomyopathy in Friedreich's ataxia.

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  • 1The John Radcliffe Hospital, Oxford, UK.


Friedreich's ataxia (FRDA), an autosomal recessive disorder, is characterized by spinocerebellar degeneration and cardiomyopathy. Here we explore some of the putative mechanisms underlying the cardiomyopathy in FRDA that have been elucidated using different experimental models. FRDA is characterized by a deficiency in frataxin, a protein vital in iron handling. Iron accumulation, lack of functional iron-sulphur clusters, and oxidative stress seem to be among the most important consequences of frataxin deficiency explaining the cardiac abnormalities in FRDA.

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