Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Hereditary Ataxia Clinical Trial

Official title:
Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

Status Completed

Clinical Trial Summary

OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.

II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.

Clinical Trial Description

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 from blood, skin and muscle; genotype phenotype correlation.

A neuropathologic evaluation is conducted postmortem, when possible. ;

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00004306
Study type	Observational
Source	Office of Rare Diseases (ORD)
Contact
Status	Completed
Phase	N/A
Start date	November 1999
Completion date	March 2009

View Details

See also
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