npj Parkinson's Disease (Nov 2022)

A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

  • Anja Kovanda,
  • Valentino Rački,
  • Gaber Bergant,
  • Dejan Georgiev,
  • Dušan Flisar,
  • Eliša Papić,
  • Marija Brankovic,
  • Milena Jankovic,
  • Marina Svetel,
  • Nataša Teran,
  • Aleš Maver,
  • Vladimir S. Kostic,
  • Ivana Novakovic,
  • Zvezdan Pirtošek,
  • Martin Rakuša,
  • Vladimira Vuletić,
  • Borut Peterlin

DOI
https://doi.org/10.1038/s41531-022-00408-6
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 4

Abstract

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Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.