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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
This study is currently recruiting patients.
Sponsored by: | National Institute of Neurological Disorders and Stroke (NINDS) Baylor College of Medicine
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Information provided by: | Office of Rare Diseases (ORD) |
Purpose
OBJECTIVES: I. Clinically evaluate members from families with dominantly inherited ataxias and collect blood samples for detailed molecular studies. II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.
Condition |
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Hereditary Ataxia |
MedlinePlus related topics: Brain Diseases; Degenerative Nerve Diseases; Genetic Disorders; Spinal Cord Diseases
Study Type: Observational
Study Design: Screening
Expected Total Enrollment: 30
Study start: November 1999
PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction for lymphoblastoid cell lines; gene mapping; and linkage analysis. A neuropathologic evaluation is conducted postmortem, when possible. Patients with recessive ataxia also receive a developmental assessment.
Eligibility
Genders Eligible for Study: Both
Criteria
Location and Contact Information
More Information
U.S. National Library of Medicine, Contact NLM Customer Service | ||||||||||||||
National Institutes of Health, Department of Health & Human Services | ||||||||||||||
Copyright, Privacy, Accessibility, Freedom of Information Act |