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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 42

Spinocerebellar ataxia type 42

Summary

Spinocerebellar ataxia-42 (SCA42) is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable. The disorder is slowly progressive (Coutelier et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND, CACNA1G
    Summary: calcium voltage-gated channel subunit alpha1 G

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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