## Abstract Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar ataxia and is often associated with a cardiomyopathy. The disease is caused by an expanded intronic GAA repeat, which results in deficiency of a mitochondrial protein called __frataxin__. In the yeas
Cardiac bioenergetics in Friedreich's ataxia
β Scribed by Raffaele Lodi; Bheeshma Rajagopalan; Anthony H. V. Schapira; J. Mark Cooper
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 79 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0364-5134
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## Abstract Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. Left ventricular mass is used as primary outcome measure in recent intervention studies but systematic analyses of FA cardiomyopa
Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how