Premotor Signs and Symptoms of Parkinsonism in Non-Manifesting GBA Mutation Carriers

ID Number 12-0255-00002

Principal Investigator(s)
Manisha Balwani

Department(s) or Division(s)
Genetics and Genomic Sciences

Research Entity
Gaucher Disease Treatment Center

Description

Recently, it has been shown that people with Gaucher disease (who have changes in the GBA gene) and even Gaucher carriers (who have only one change in the GBA gene and do not have Gaucher disease), are at a higher risk for Parkinson's Disease (PD). However, the vast majority of people with Gaucher or Gaucher carriers are at higher risk for PD before PD signs and symptoms develop. In this research study, we will administer a series of tests to examine participants for non-motor signs that may be linked to PD, some of which may appear years prior to motor disease onset. It is important to identify the early signs of PD, because it will help researchers develop interventions to prevent the disease in the future.

Subjects may qualify for the study if at least one of their relatives has Gaucher disease, therefore making them more likely to be GBA mutation carriers.



Contact Information
Manisha Balwani, MD, MS
(212) 241-0915
manisha.balwani@mssm.edu

Recruiting Patients: Yes