GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia 2

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements and, in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.

Genes See tests for all associated and related genes

  • Also known as: ATX2, SCA2, TNRC13, ATXN2
    Summary: ataxin 2

Clinical features

Help

Show allHide all

Practice guidelines

  • EFNS/ENS, 2014
    EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center