Article
Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.
Archives of neurology - 1 Dec 2005
Bhidayasiri Roongroj, Perlman Susan L, Pulst Stefan-M, Geschwind Daniel H
Abstract excerpt
BACKGROUND: Friedreich ataxia (FA), the most common hereditary ataxia, is caused by pathological expansion of GAA repeats in the first intron of the X25 gene on chromosome 9. Since the discovery of the gene, atypical features are increasingly recognized in individuals with FA, and up to 25% of patients with recessive or sporadic ataxia do not fulfill the Harding or Quebec Cooperative Study on Friedreich's Ataxia...
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