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Spinocerebellar ataxia type 12
rareSpinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
- Identifiers
- MONDO:0011439 OMIM:604326Orphanet:98762
- Causal genes
- PPP2R2B
- Also known as
- SCA12 · spinocerebellar ataxia 12
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