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

• DOI: 10.1038/s41531-022-00408-6
• Publication Date: 2022-11-04T15:04:59Z
• Authors: 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
• Keywords: 0301 basic medicine; 03 medical and health sciences; Parkinson's disease, Genetic testing; BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics.; BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Neurology.; BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Neurologija.; Neurology. Diseases of the nervous system; RC346-429; Brief Communication; BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka.; 3. Good health

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