Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?

Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?

Abstract Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson’s disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, < 50 years) and 70,363 controls. Burden meta-analysis revealed an association between rare nonsy...

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Main Authors: Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N. Alcalay, Ziv Gan-Or
Format: Article
Language:English
Published: Nature Portfolio 2024-10-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-024-00809-9
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