npj Parkinson's Disease (Oct 2024)
Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?
- 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
Affiliations
- Konstantin Senkevich
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Sitki Cem Parlar
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Cloe Chantereault
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Eric Yu
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Jamil Ahmad
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Jennifer A. Ruskey
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Farnaz Asayesh
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Dan Spiegelman
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- Cheryl Waters
- Department of Neurology, College of Physicians and Surgeons, New York
- Oury Monchi
- Department of Neurology and neurosurgery, McGill University
- Yves Dauvilliers
- National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier
- Nicolas Dupré
- Neuroscience axis, CHU de Québec-Université Laval
- Irina Miliukhina
- Institute of the Human Brain of RAS
- Alla Timofeeva
- First Pavlov State Medical University of St. Petersburg
- Anton Emelyanov
- First Pavlov State Medical University of St. Petersburg
- Sofya Pchelina
- First Pavlov State Medical University of St. Petersburg
- Lior Greenbaum
- Faculty of Medicine, Tel Aviv University
- Sharon Hassin-Baer
- Faculty of Medicine, Tel Aviv University
- Roy N. Alcalay
- Department of Neurology, College of Physicians and Surgeons, New York
- Ziv Gan-Or
- The Neuro (Montreal Neurological Institute-Hospital), McGill University
- DOI
- https://doi.org/10.1038/s41531-024-00809-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 5
Abstract
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, 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.040). A meta-analysis of EOPD patients demonstrated an association between all rare heterozygous SYNJ1 variants and PD (Pfdr = 0.029).
