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Spinocerebellar Ataxia Type 1

^ http://purl.obolibrary.org/obo/NCIT_C129982


An autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities. [ NCI ]

Synonyms: Spinocerebellar Ataxia Type 1, SCA1

Term info

Preferred Name

Spinocerebellar Ataxia Type 1

Semantic Type

Disease or Syndrome

UMLS CUI

C0752120

code

C129982

Term relations

Subclass of: