Phenotype/Genotype Correlations in Movement Disorders

Objective

The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis, and to investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable.

Additionally, we plan to screen subjects with and without Parkinson's disease for the presence of revelant antibodies, such as antibodies targeting tobacco mosaic virus antigens which may have a protective role against the development of the disease or may be related to other pathophysiologic mechanisms.

Study population

Subjects older than 2 years old with movement disorders and their family members will be enrolled. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease causing genes and genetic mechanisms involved in a particular disorder.

Design

Eligible participants will have an initial medical and/or neurological evaluation at the Clinical Center or in the field, including blood draw for genetic testing.

Outcome measure

Determination of phenotype/genotype correlations in specific movement disorders, gene identification if not known, presence of antibodies in Parkinson's disease and establishment of a clinical diagnosis when possible.