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C129982Level 9

Spinocerebellar Ataxia Type 1

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - SCA1

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