A new autosomal dominant pure cerebellar ataxia.
case_series · Level IV
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- Record sourced from PubMed, PMID 11723290.
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Abstract
A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.
Medical subject headings
- Chromosome Aberrations
- Genes, Dominant
- Spinocerebellar Ataxias