Article
Hereditary ataxias.
Mayo Clinic proceedings - 1 May 2000
Evidente V G, Gwinn-Hardy K A, Caviness J N, Gilman S
Abstract excerpt
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. Molecularly, many of them are due to trinucleotide repeat expansions. In Friedreich ataxia, the trinucleotide repeat expansions lead to a "loss of function." In the dominant ataxias, the expanded repeats lead to a "gain of function," most likely through accumulation of...
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