| description | 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 |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
