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spinocerebellar ataxia type 17 (SCA17)

Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.
SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

OTHER NAME(S): cerebellar ataxia 17

ABREVIATION(S):
SCA17

TYPE: psychomotor impairment, eye or vision problem

Related patway(s): transcription factors

DNAtraffic protein(s) related to disease: TBP

OMIM: 607136

Last modification date: Oct. 1, 2011