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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 2


Other Names for this Disease

  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia Cuban type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for spinocerebellar ataxia 2?

Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2.[1]

The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 6/25/2014

References
  1. Stefan-M Pulst. Spinocerebellar ataxia type 2. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1275/. Accessed 6/25/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
Other Names for this Disease
  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia Cuban type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.