Genetic variants can affect survival time i
(Vienna, Sunday June 26, 2022) According to a new study presented today at the 8e Congress of the European Academy of Neurology (EAN).1
Scientists from four Parisian institutes, including the prestigious Paris Brain Institute at Sorbonne University, have studied the records of 2,037 patients with Parkinson’s disease since their first hospital visit and believe that genetic variants may shed light. the speed or slowness of progression of Parkinson’s disease in cases where only one gene is involved.
The risk ratios calculated by the researchers made it possible to compare the survival of patients carrying a genetic mutation with a control group without a genetic mutation. Patients who had either the LRRK2 Where PRKN genetic mutations had a longer survival time than patients without genetic mutation (relative risk of death = 0.5 and 0.42 respectively). Conversely, those who had the SNCA Where ACS mutations had a shorter survival time than those without mutations (relative risk of death = 10.20 and 1.36 respectively).
Principal Investigator Dr Aymeric Lanore from the Brian Institute in Paris said that this was the first study comparing the survival times of patients carrying these four genes responsible for monogenic forms of Parkinson’s disease.
“The results suggest the shorter survival of SNCA and ACS patients may be linked to more rapid motor disease progression and earlier development of cognitive impairment,” explained Dr Lanore.. “This is important new information that could aid in the development of new drugs targeting these genetic variants to slow or stop the disease.
Parkinson’s disease is a condition in which parts of the brain are gradually damaged over time. There are motor symptoms, including involuntary tremors of certain parts of the body, slowness of movement, stiffness of muscles, but also non-motor symptoms of the disease such as progressive cognitive decline.2 About 1.2 million people live with Parkinson’s disease in Europe, and this figure is expected to double by 2030.3
Monogenic forms of Parkinson’s disease – those caused by a single genetic variant – account for about 5% of all cases, as most appear to occur sporadically, with no family history.4 A change in the LRRK2 gene is probably the most common genetic variant associated with Parkinson’s disease. People with this variant can develop the disease later in life and have a 70% chance of being diagnosed before the age of 80.5
Dr Lanore concluded: “These findings not only help to better understand what drives the progression of Parkinson’s disease, but they may also allow clinicians to have honest conversations with their patients about expected survival times – all as cancer patients are informed of their prognosis. This can allow patients to make decisions about their care and how much time they may have left.
Notes to editors:
A reference to the The EAN Congress 2022 must be included when communicating the information contained in this press release.
For more information or to speak to an expert, please contact Luke Paskins or Sean Deans at [email protected] or call +44 (0) 208 154 6393
About the Expert:
Dr Aymeric Lanore is from Sorbonne University, Institut du Cerveau – Paris Brain Institute – ICM, Inserm, CNRS, Paris, France.
EAN – The House of Neurology:
The European Academy of Neurology (EAN) is the European home for neurology. Founded in 2014, by the merger of two European neurological societies, EAN represents the interests of over 45,000 individual members and 47 national institutional members from across the continent.
EAN welcomes press interest in neurological issues and is happy to provide assistance to journalists attending the congress or using the EAN website as a resource in their coverage.
- Survival in monogenic forms of Parkinson’s disease: results of a large retrospective study, presented at the EAN 2022 Congress.
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