Spinocerebellar ataxia
cv_term_accession
KW-0950
canonical
uniprot_keyword
KW-0950
canonical
name
Spinocerebellar ataxia
uniprot
synonym
ADCA
uniprot
synonym
Autosomal dominant cerebellar ataxia
uniprot
synonym
Autosomal dominant spinocerebellar ataxia
uniprot
synonym
OPCA
uniprot
synonym
Olivopontocerebellar atrophy
uniprot
synonym
SCA
uniprot
synonym
Spinocerebellar atrophy
uniprot
definition
Protein which, if defective, causes autosomal dominant spinocerebellar ataxia, a clinically and genetically heterogeneous group of autosomal dominant cerebellar ataxias (ADCA). Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements. Spinocerebellar ataxia is caused by degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. Three clinical types are distinguished, according to the extent of extra-cerebellar signs: cerebellar ataxia with additional features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia, is known as ADCA type I; cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy is defined as ADCA type II; pure cerebellar ataxia without additional signs is classified as ADCA type III.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords