A new gene for early-onset Parkinson’s disease, PMSF1, has been discovered, with a variant linked to the neurologic phenotype in 15 families worldwide. Patients with a missense mutation show milder symptoms, while those with a loss-of-function variant have more severe phenotypes. Early-onset PD has been observed in affected individuals, with different types of symptoms depending on the variant. Genetic testing for PD is complicated, with some variants being of uncertain significance. However, advancements in genetic research may lead to the development of treatments that could delay or prevent the onset of PD. Collaborative efforts between clinicians and researchers are key to managing patient expectations and finding effective therapies.
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New Parkinson’s Disease Gene Discovered
