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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 31

Spinocerebellar ataxia type 31

Synonyms
Spinocerebellar ataxia 16q22-linked
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting Purkinje cells (summary by Sato et al., 2009). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). See also SCA4 with sensory axonal neuropathy (600223), which also maps to chromosome 16q, but has a different phenotype. [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BEAN, SCA31, BEAN1
    Summary: brain expressed associated with NEDD4 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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