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Kovanda, Anja; Rački, Valentino; Bergant, Gaber; Georgiev, Dejan; Flisar, Dušan; Papić, Eliša; Brankovic, Marija; Jankovic, Milena; Svetel, Marina; Teran, Nataša; Maver, Aleš; Kostic, Vladimir S; Novakovic, Ivana; Pirtošek, Zvezdan; Rakuša, Martin; Vuletić, Vladimira; Peterlin, Borut
NPJ Parkinson's Disease, 11/2022, Volume: 8, Issue: 1Journal Article
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.
