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

Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00004306

Enrollment

Registered

1999-10-19

Start date

1999-11-30

Completion date

2009-03-31

Last updated

2012-03-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Ataxia

Keywords

hereditary ataxia, neurologic and psychiatric disorders, rare disease

Brief 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.

Detailed 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

3 Years to No maximum

Healthy volunteers

Inclusion criteria

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion criteria

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.

Countries

United States

Outcome results