Gene variants may affect survival in PwPs, new study shows

(Vienna, Sunday, June 26, 2022) How long someone with Parkinson’s disease lives may be related to specific gene mutations, new research shows today on the 8.e Congress of the European Academy of Neurology (EAN).1

Scientists from four institutes in Paris, including the prestigious Paris Brain Institute at Sorbonne Université, studied the data of 2,037 patients with Parkinson’s disease from their first hospital visit and believe the genetic variants may shed light on how fast or slow the disease progresses. Parkinson’s progresses in cases where a single gene is involved.

The hazard ratios calculated by the researchers made it possible to compare the survival of patients with a genetic mutation with a control group without a genetic mutation. Patients receiving either the LRRK2 or PRKN gene mutations had a longer survival time than patients without gene mutation (hazard ratio of death = 0.5 and 0.42, respectively). Conversely, those who have the SNCA or GBA mutations had a shorter survival time than those without mutation (hazard ratio of death = 10.20 and 1.36, respectively).

Principal investigator Dr Aymeric Lanore of the Paris Brian Institute said this was the first study to compare survival times of patients who carry these four genes responsible for monogenic forms of Parkinson’s disease.

“The results suggest a shorter survival of SNCA and GBA patients may be associated with more rapid motor disease progression and earlier development of cognitive impairment,” explains Dr. lanora . from† †These are important new insights that could help develop new drugs that target these genetic variants to slow or stop the disease.”

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 body parts, slowness of movement, stiffness of muscles, as well as non-motor symptoms of the disease such as progressive cognitive decline.2 About 1.2 million people in Europe live with Parkinson’s disease, and this number is expected to double by 2030.3

Monogenic forms of Parkinson’s disease – those caused by a single gene variant – account for about 5% of all cases, as most seem to occur sporadically, without any family history.4 A change in the LRRK2 gene is probably the most common genetic variant associated with Parkinson’s disease. People who carry this variant can develop the disease later in life and have a 70% chance of being diagnosed by age 80.5

dr. Lanore concluded: “These findings not only help advance our understanding of what triggers 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 improve their prognosis.” This can empower patients to make decisions about their care and the time they have left.”

Notes to editors:

Press inquiries:

A reference to the EAN Congress 2022 to be included in 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: press@ean.org or call +44 (0) 208 154 6393

About the expert:

dr. Aymeric Lanore is from Sorbonne Université, Institut du Cerveau – Paris Brain Institute – ICM, Inserm, CNRS, Paris, France.

EAN – The Home of Neurology:

The European Academy of Neurology (EAN) is Europe’s home of neurology. Founded in 2014, through the merger of two European neurological associations, EAN represents the interests of more than 45,000 individual members and 47 national institutional members from across the continent.

EAN welcomes press interest in neurological issues and is happy to assist journalists attending the conference or using the EAN website as a reporting tool.

References:

  1. Survival in monogenic forms of Parkinson’s disease: results of a large retrospective study, presented at the EAN Congress 2022.
  2. https://www.nhs.uk/conditions/parkinsons-disease/
  3. https://www.age-platform.eu/sites/default/files/EPDA-Political_Manifesto_Parkinson.pdf
  4. https://pubmed.ncbi.nlm.nih.gov/30448284/
  5. https://www.parkinsons.org.uk/information-and-support/does-parkinsons-run-families

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