HELSINKI, Finland — A new gene for early-onset Parkinson’s disease (PD) has been identified, a discovery that experts believe will have important clinical implications in the not-too-distant future.
A variant in PMSF1, a proteasome regulator, was identified in 15 families from 13 countries around the world, with 22 affected individuals.
“These families were ethnically diverse, and in all of them, the variant in PMSF1 correlated with the neurologic phenotype. We know this is very clear cut — the genotype/phenotype correlation — with the patients carrying the missense mutation having ‘mild’ symptoms, while those with the progressive loss-of-function variant had the most severe phenotype,” she noted.
The link to the full article is below. Not long and easy to digest.
https://www.medscape.com/viewarticle/new-parkinsons-disease-gene-discovered-2024a1000d3s
NOTE:
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