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Study Description

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2, 3, and 6 (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease.

The research questions are:

  • How does the disease progress over time?
  • What are the best ways to measure disease progression?
  • Do some genes, other than the gene that is abnormal in the SCA disease, have any effect on the way the disease behaves?

  • Study Weblinks:
  • Study Type:
    • Observational
    • Longitudinal
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

Inclusion Criteria

  1. Age 6 years and above
  2. Presence of symptoms and signs of ataxia
  3. Molecular diagnosis of SCA 1, 2, 3, or 6 either in the participant or an affected family member
  4. Willingness to participate in the study and ability to give informed consent.

Exclusion Criteria

  1. Known recessive, X-linked and mitochondrial ataxias
  2. Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing

Study History

  • Study Activated May 19, 2010
  • Study Final Closed October 16, 2012

Selected publications
Diseases/Traits Related to Study (MeSH terms)
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