Article
Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA.
Clinical neuroscience (New York, N.Y.) - 1 Jan 1995
Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, Tsuji S
Abstract excerpt
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized clinically by various combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, dementia and psychiatric symptoms. Based on the phenomenon of anticipation, the gene for DRPLA was recently identified. DRPLA is caused by unstable expansion of a CAG repeat in the gene located on the short...
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