Review
doi: 10.1001/archneur.65.10.1296.
Friedreich ataxia
Affiliations
- PMID: 18852343
- DOI: 10.1001/archneur.65.10.1296
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Review
Friedreich ataxia
Arch Neurol.
2008 Oct.
Abstract
Friedreich ataxia is an autosomal recessive degenerative disease that primarily affects the nervous system and the heart. It is named after its original description as a "degenerative atrophy of the posterior columns of the spinal cord" by Nicholaus Friedreich, who was a professor of medicine in Heidelberg in the second half of the 19th century. The full extent of the Friedreich ataxia phenotype and its genetic epidemiology could only be appreciated after a direct genetic test became available in 1996. At the same time, the complex pathogenesis of Friedreich ataxia started to be unraveled. Herein, I review our current knowledge of the disease and how it is contributing to the development of therapeutic approaches.
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