Evaluation of a Large Cohort of Patients with Sporadic or Familial Parkinson’s Disease for Involvement of the Parkin Gene

 

Christine Klein, M.D.

Medical University of Luebeck, Germany

 


Abstract

 


Dr. Christine Klein of the University of Luebeck (Germany) and her colleagues will compare blood samples from 122 sporadic and familial PD patients and family members, as well as 210 already-collected samples from movement disorder centers. The screen will be undertaken by performing both conventional methods of screening and a newly developed method of gene dosage studies which allows for the detection of a much higher percentage of mutations. This study is an attempt to determine the occurrence of the parkin (Park 2) gene mutation and correlate its effects both in younger- and older-onset PD patients. Overall, it is hoped that her resultant data will contribute to our knowledge of cause(s) of Parkinson's disease.

 


Progress Report (as of 3/2003)

 

Dr. Christine Klein and her Medical University of Lubeck (Germany) colleagues have been analyzing the parkin gene, testing for the presence or absence of that gene in 250 early-onset parkinsonian patients. They have identified more than seventy mutations (some patients carry more than one mutation), and their data suggest that carrying even one mutuation may increase susceptibility to develop parkinsonism (usually two mutations have to be inherited in order to cause disease onset). They have also PET-scanned both patients and family members of in order to set baselines for detecting future changes in their brains. The group's goal is to provide more information on causes(s) and pathophysiologic factors of parkinsonism caused by gene mutuations that may lead to similar knowledge of classic Parkinson's disease.