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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 12

Spinocerebellar ataxia type 12

Synonyms
Spinocerebellar Ataxia Type12
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32. [from SNOMEDCT_US]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B55BETA, PP2AB55BETA, PP2ABBETA, PP2APR55B, PP2APR55BETA, PR2AB55BETA, PR2ABBETA, PR2APR55BETA, PR52B, PR55-BETA, PR55BETA, SCA12, PPP2R2B
    Summary: protein phosphatase 2 regulatory subunit Bbeta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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