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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.
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.
Primary Purpose: Screening
University of Texas Medical Branch at Galveston
Office of Rare Diseases (ORD)
Published on BioPortfolio: 2014-08-27T03:58:19-0400
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