New research presented at the European Academy of Neurology (EAN) 2022 Congress has revealed a potential link between specific gene mutations and the rate at which Parkinson’s disease progresses.
Data were gathered from the medical records of 2,037 patients with Parkinson’s from four institutes in Paris, and survival times were tracked for those carrying a specific gene mutation vs a control group without the mutation. All patients in the study had a monogenic form of Parkinson’s, which accounts for approximately 5% of cases overall.
Patients who had a mutation in the LRRK2 gene, which is responsible for protein kinase production, had longer survival times than those without the mutation (HR = 0.5). A similar pattern was found in patients with a mutation in the PRKN gene, which codes for parkin, a protein that helps break down other proteins for reuse (HR = 0.42 vs those without the mutation).
Patients who had the SNCA or GBA mutations had shorter survival times than those in the control group (HR = 10.20 and 1.36 respectively). SNCA is responsible for the production of alpha-synuclein, and GBA is responsible for the production of glucocerebrosidase.
“The results suggest the shorter survival of SNCA and GBA patients may be related to faster motor progression of the disease and earlier development of cognitive impairment,” said Aymeric Lanore, MD, principal investigator of the study. “These are important new insights which could help the development of new drugs targeting these genetic variants to slow down or stop the disease.”