According to a new study presented at the 8th European Academy of Neurology (EAN) Congress, the duration of Parkinson’s disease may depend on particular gene mutations.
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The records of 2,037 Parkinson’s disease patients from their initial hospital visit were examined by researchers from four Paris-area institutes, including the renowned Paris Brain Institute at the Sorbonne Université. People believe the genetic variations may provide insight into how quickly or slowly Parkinson’s disease advances in cases where a single gene is involved.
The lifespan of patients with a genetic mutation to a control condition without a genetic mutation may be compared thanks to the researchers’ computed hazard ratios. Those who possessed a gene mutation in either LRRK2 or PRKN lived longer than patients without a mutation (hazard ratios of death were 0.5 and 0.42, respectively). The risk ratios for death were 10.20 and 1.36, respectively, for individuals who had the SNCA or GBA mutations compared to those who did not.
This was the first study to examine the survival periods of patients carrying these four genes, which are responsible for the monogenic types of Parkinson’s disease, according to study leader Dr Aymeric Lanore of the Paris Brian Institute.
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. These are important new insights which could help the development of new drugs targeting these genetic variants to slow down or stop the disease.”
Dr Aymeric Lanore, Study Lead Researcher, Paris Brian Institute
Parkinson’s disease is a disorder where the brain gradually loses function in several areas. There are non-motor signs of the disease including gradual cognitive impairment, as well as motor symptoms like involuntary shaking of certain body parts, slowness of movement, and stiffness of muscles. Parkinson’s disease affects about 1.2 million individuals in Europe, and by 2030, that number is expected to double.
As most occurrences of Parkinson’s disease tend to emerge spontaneously, without any family history, monogenic forms of the disease, those brought on by a single gene mutation, make up around 5% of all cases. Probably the most frequent genetic variation linked to Parkinson’s disease is a mutation in the LRRK2 gene.
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 time—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.”
Dr Aymeric Lanore, Study Lead Researcher, Paris Brian Institute
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