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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia type 2


Other Names for this Disease
  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia 2
More Names
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Overview


Spinocerebellar ataxia type 2 is a progressive disorder that causes uncoordinated movement (ataxia), slow eye movement, and sometimes dementia (memory loss). It is caused by a mutation in the ATXN2 gene. It usually affects people in adulthood, but can develop in childhood or adolescence. Each child of a person with spinocerebellar ataxia 2 has a 50% (1 in 2) chance of inheriting the condition.[1]
Last updated: 1/31/2014

References

  1. Pulst SM. Spoinocerebellar ataxia type 2. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1275/. Accessed 1/31/2014.
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Basic Information

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Neuromuscular Disease Center at Washington University provides information about spinocerebellar ataxia 2.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia type 2. Click on the link to view a sample search on this topic.

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