Clinical Trial: Phenotype/Genotype Correlations in Movement Disorders

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Phenotype/Genotype Correlations in Movement Disorders

Brief Summary: The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. 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 responsible for a specific disorder.

Detailed Summary:

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.

We will also assess a series of exploratory peripheral blood biomarkers, including, but not limited to, those delineated by DNA, RNA, protein, and/or metabolite alterations in an effort to more accurately predict those with, or at risk of having, the specific neurological disease. Finally, we will seek to validate the NIH Toolbox Odor Identification Test (NIHOIT) against the standard University of Pennsylvania Smell Identification Test (UPSIT) in patients with Parkinson's Disease.

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 and/or peripheral biosignatures involved in a particular disorder.

Design:

Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)

Current Primary Outcome: Correlation between the genotype and phenotype in movement disorders. [ Time Frame: 10 Years ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: July 7, 2001
Date Started: July 6, 2001
Date Completion:
Last Updated: April 21, 2017
Last Verified: February 6, 2017