Examining the link between Gaucher disease and Parkinsonism

In the March 2010 edition of Gauchers News, we reported on a study into the possible relationship between Gaucher disease and Parkinson's disease. Dr Alisdair McNeill, a Clinical Research Fellow in the Institute of Neurology and Royal Free Hospital, London provides details of this study:

In partnership with the Institute of Neurology, the Lysosomal Storage Disorders unit at the Royal Free Hospital has begun a major research project examining the link between Gaucher and Parkinson's diseases.

An increased prevalence of Parkinson's disease amongst sufferers and carriers of Gaucher disease has been confirmed by recent studies (see below).  The current project aims to understand why Gaucher disease patients and carriers have an increased chance of Parkinson's disease.  To do this we will assess a large group of people with Gaucher disease and carriers for signs of early Parkinson's disease.  We will be inviting all people with Gaucher disease attending the Lysosomal Storage Disorders unit at the Royal Free Hospital to participate and additionally, patients will be asked to tell their relatives (parents, siblings or children) about the study and ask them to contact the research team if they would like to participate.

Participants are interviewed for about 40 minutes, either at the Royal Free Hospital or at a convenient time at their home, and will involve testing the sense of smell and speed of hand movements.  These tests do not enable us to detect early Parkinson's disease in an individual but instead, by using statistical tests to compare the scores from groups of Gaucher patients and carriers with people who do not have mutations, we will be able to detect signs of early Parkinson's disease in the group as a whole. Participants will also be asked to give blood and urine samples. In the Institute of Neurology research laboratory these samples will be tested for alterations in levels of certain chemicals to see if this explains the predisposition to

A small number of participants with Gaucher disease will be asked to have a skin sample taken.  This is a simple procedure done under local anaesthetic in which a piece of skin less than half a centimetre across is taken using a sterile instrument.  The skin cells will be grown in the research laboratory and these skin cells will be studied for chemical changes which might predispose to Parkinson's disease.  If you would like to take part please contact Dr Alisdair McNeill (email a.mcneill@medsch.ucl.ac.uk or leave a message with Ann Stone on 020 7794 0500 ext 34363).
Velayati A. The role of glucocerebrosidase mutations in Parkinson's disease and lewy body disorders. Curr Neurol Neurosci Rep 2010; 10: 190-198 Multicenter analysis of  lucocerebrosidase mutations in Parkinson\'s disease. New England Journal of Medicine 2009; 361: 1651-1661.