Spinocerebellar ataxia type 17

MONDO:0011781

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

Also known as: CPD2, HDL4, Huntington disease-like 4, OPCA V, OPCA with dementia and extrapyramidal signs, SCA 17, SCA17, cerebelloparenchymal disorder II

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