In this project, we seek to 1) clarify and expand the nosology of the hereditary movement disorders; 2) contribute to the understanding of the underlying biochemical basis; 3) determine the most effective treatment and predictive testing for each disorder; and 4) suggest guidelines for counseling individuals at risk. General syndromes under study include the dystonias, tic disorders, the ataxias and myoclonus. Approaches include standard epidemiologic and clinical genetic studies, and collaborative efforts in evaluating the role of neurotransmitters such as dopamine, and PET Studies. We are performing PET studies of at risk members of two large kindreds with hereditary ataxia. Preliminary results suggest: a more generalized involvement than previously recognized; presymptomatic changes by PET; and evidence for genetic heterogeneity.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Intramural Research (Z01)
Project #
1Z01NS001924-20
Application #
3881678
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
20
Fiscal Year
1990
Total Cost
Indirect Cost
City
State
Country
United States
Zip Code