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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Ataxias are a group of diseases that result in a lack of coordinated muscle movement. Hereditary ataxias are genetically heterogeneous and it is reported that 40% of suspected genetic ataxias currently have an unknown cause. We used exome sequencing to detect mutations responsible for ataxia. We sequenced, when available, multiple individuals per family to identify family specific mutations and further confirmed segregation of variants using samples from available affected and unaffected family members.
- Study Design:
- Family/Twin/Trios
- Study Type:
- Family
- Total number of consented subjects: 54
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
- Probands had a suspected genetic form of ataxia and had tested negative on commercially available tests for common ataxia mutations.
- Affected and, in most cases, unaffected relatives of proband were recruited.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v1.0 N/A N/A Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v2.0 N/A N/A Whole Exome Sequencing Roche NimbleGen SeqCap EZHuman Exome Library v3.0 N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Ataxia
- Authorized Data Access Requests
- Study Attribution
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Principal Investigator
- Margit Burmeister, PhD. University of Michigan, Ann Arbor, MI, USA.
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Funding Source
- R01-NS078560. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator