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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 15


Other Names for this Disease

  • SCA15
  • SCA16 (formerly)
  • Spinocerebellar ataxia 16 (formerly)
  • Spinocerebellar ataxia type 15
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.[1] 
Last updated: 1/22/2013

References

  1. Storey E. Spinocerebellar Ataxia Type 15. GeneReviews. April 2011; http://www.ncbi.nlm.nih.gov/books/NBK1362/. Accessed 1/22/2013.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 15. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • SCA15
  • SCA16 (formerly)
  • Spinocerebellar ataxia 16 (formerly)
  • Spinocerebellar ataxia type 15
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.