Gene variants show how fast or slow Parkinson’s disease progresses in cases involving a single gene.
Gene variants show how fast or slow Parkinson’s disease progresses in cases involving a single gene. The hazard ratios calculated by the researchers made it possible to compare the survival of patients with a genetic mutation to a control group without a genetic mutation.
‘The shorter survival of SNCA and GBA patients may be related to faster motor progression of Parkinson's disease and earlier development of cognitive impairment. These important new insights could help the development of new drugs targeting these genetic variants to slow down or stop the disease.’
Patients with either the LRRK2 or PRKN gene mutations had a longer survival time than patients without a gene mutation (hazard ratio of death = 0.5 and 0.42, respectively). Conversely, those with the SNCA or GBA mutations had a shorter survival time than those without a mutation (hazard ratio of death = 10.20 and 1.36, respectively).
Lead researcher Dr. Aymeric Lanore of the Paris Brain Institute said this was the first study to compare the survival times of patients carrying these four genes responsible for monogenic forms of Parkinson’s disease.
The Genetic Link to Parkinson’s Disease Patients’ Survival
Parkinson’s disease is a condition in which parts of the brain become progressively damaged over time. There are motor symptoms, including involuntary shaking of parts of the body, slowness of movement, and stiffness of muscles, but also non-motor symptoms of the disease such as progressive cognitive decline. Around 1.2 million people are living with Parkinson’s Disease in Europe and this is forecast to double by 2030.Monogenic forms of Parkinson’s disease — those caused by a single gene variant — account for approximately 5% of all cases as most appear to occur sporadically, without any family history. A change in the LRRK2 gene is probably the most common genetic variant associated with Parkinson’s disease. People who carry this variant may develop the disease later in life and have a 70% chance of being diagnosed by age 80.
Dr. Lanore concluded, “These findings not only help increase our understanding of what drives the progression of Parkinson’s disease, but they may also enable clinicians to have honest conversations with their patients about expected survival times — just as cancer patients are told their prognosis. This can empower patients to make decisions about their care and the time they may have left.”
Advertisement