Huntington's Disease
Conditions
Keywords
Huntington's disease, neurologic and psychiatric disorders, rare disease
Brief summary
OBJECTIVES: I. Correlate clinical outcome with cerebral glucose metabolism in patients with Huntington's disease (HD) and their at-risk relatives. II. Evaluate the efficacy of cerebral glucose metabolism in observing the pathophysiologic development of HD, monitoring responses to experimental therapy, and predicting HD genotype. III. Identify, define, and describe the natural history of pathophysiologic lesions in HD. IV. Characterize the genotypic and phenotypic expression of the HD gene.
Detailed description
PROTOCOL OUTLINE: Participants are screened for Huntington's disease, including cerebral glucose metabolism assessment and genetic testing. Studies include a detailed family history and neurologic, psychometric, and neurobehavioral evaluations. Imaging includes positron emission tomography with fluorodeoxyglucose and brain magnetic resonance imaging. A genotype assessment is performed; genetic results are not disclosed to patients or relatives.
Interventions
None listed
Sponsors
National Institute of Neurological Disorders and Stroke (NINDS)
University of California, Los Angeles
National Center for Research Resources (NCRR)
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- * Documented family history of Huntington's disease (HD) * Symptomatic HD: chorea required * At-risk for HD: no detectable systemic or oculomotor abnormality * Age-matched control subjects * No history of inherited neurological disease * No general or neurologic abnormality --Prior/Concurrent Therapy-- At least 4 weeks since other HD treatment, e.g.: * Haloperidol * Benzodiazepine * Other tranquilizers or neuroleptics --Patient Characteristics-- * No pregnant women
Outcome results
None listed