Article
Spinocerebellar ataxia type 12.
Handbook of clinical neurology - 1 Jan 2012
O'Hearn Elizabeth, Holmes Susan E, Margolis Russell L
Abstract excerpt
SCA12 is a late-onset, autosomal dominant, slowly progressive disorder. Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia. In the index SCA12 kindred, which resides in North America and is of German ancestry, parkinsonism, anxiety, depression, and cognitive dysfunction are not uncommon. SCA12 is linked to a CAG repeat expansion mutation...
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