The National Gaucher Foundation has endorsed a clinical study designed to identify biomarkers of Parkinson’s disease (PD), and to evaluate the connection between this disease and the occurrence of genetic mutations in GBA gene, which is central to Gaucher disease.
Launched in 2010, PPMI is an observational clinical study designed to collect clinical, imaging and biologic information on patients with and without PD. Conducted by a network of 33 clinical centers around the world, the study is expected to enroll about 2,000 participants, including healthy volunteers, PD patients, and participants who are at risk of developing PD. Among this last group are those who carry mutations in the glucocerebrosidase, or GBA, gene.
GBA mutations are known to cause Gaucher disease, however, some studies have reported an association between these mutations and PD incidence. Although it is not very common for patients with Gaucher’s to be diagnosed with PD, GBA mutations carriers were found to be a population with high risk for PD development.
It is not fully understood the impact these mutations have on PD development. Patients with GBA-associated Parkinson’s can present broad and diverse symptoms. Still, this genetic feature is associated with earlier age of PD onset and more frequent cognitive impairment than in patients with parkinsonism without GBA mutations.
In the majority of PD patients the cause of the disease is is not known, which is called idiopathic PD. However, about 5% to 10% of PD patients have GBA mutations, making these an important genetic predisposing risk factor for the development of PD.
GBA mutations are more frequently found in individuals of Ashkenazi (Eastern European) Jewish descent than in the general population. PPMI is particularly interested in testing individuals of this specific ethnic group who have Parkinson’s, or a close relative with the disease.
PPMI provides genetic counseling and testing for GBA mutations at no cost to individuals who:
- Have Gaucher disease and are age 45 or older
- Do not have Gaucher disease, but are age 45 or older and have a first-degree relative with Gaucher’s
- Have Parkinson’s disease and are age 18 or older
- Do not have PD, but are age 45 or older and have a first-degree relative with PD
Results from the this study will provide not only more information on PD onset and progression, but also will improve new knowledge on GBA mutations as risk factors for PD. Overall, this knowledge will provide researchers the needed information to improve therapies and standard care for both PD and Gaucher’s disease patients, but also their family members.