Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
| Status: | Archived |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 7/1/2011 |
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.
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