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

DOI
https://doi.org/10.1038/s41531-024-00809-9
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 5

Abstract

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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).