" /> Spinocerebellar ataxia 17 - CISMeF





Preferred Label : Spinocerebellar ataxia 17;

Symbol : SCA17;

CISMeF acronym : HDL4; SCA17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HDL4; Huntington disease-like 4; CPD2; Olivopontocerebellar atrophy V; Cerebelloparenchymal disorder II; OPCA5;

Description : SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the TATA box-binding protein gene (TBP, 600075.0001);

Prefixed ID : #607136;

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29/07/2025


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