biostudies-literatureKafantari EThe Swedish Parkinson Foundation (Parkinsonfonden)Infrastructure support from MultiPark-a strategic research environment at Lund University, SwedenThe Swedish Parkinson AcademySkåne University HospitalRegion SkåneThe Swedish government (via ALF, avtal för läkarutbildning och forskning)1482https://www.ebi.ac.uk/biostudies/studies/S-EPMC12732595biostudies-literatureUnknown16(12)<b>Background/Objective:</b> Genetic factors contribute significantly to Parkinson's disease (PD), especially in cases with early onset or positive family history. However, previous investigations of the genetic landscape in PD populations were mainly based on targeted genotyping. The aim of this study was to investigate the prevalence of pathogenic variants in known PD-associated genes in a series of Swedish PD patients. <b>Methods:</b> We performed whole-exome sequencing on 285 PD probands from southern Sweden. Our series was enriched for patients with early disease onset or positive family history. We focused on 44 genes previously linked to PD. <b>Results:</b> We identified a <i>CHCHD2</i> p.(Phe84LeufsTer6) frameshift variant in two unrelated patients and report the first PD case of SGenesWES-Based Screening of a Swedish Patient Series with Parkinson's Disease.PMC12732595No grant numberKafantari EPuschmann ASwanberg MAtterling Brolin KWallenius JfalseWES-Based Screening of a Swedish Patient Series with Parkinson's Disease.<b>Background/Objective:</b> Genetic factors contribute significantly to Parkinson's disease (PD), especially in cases with early onset or positive family history. However, previous investigations of the genetic landscape in PD populations were mainly based on targeted genotyping. The aim of this study was to investigate the prevalence of pathogenic variants in known PD-associated genes in a series of Swedish PD patients. <b>Methods:</b> We performed whole-exome sequencing on 285 PD probands from southern Sweden. Our series was enriched for patients with early disease onset or positive family history. We focused on 44 genes previously linked to PD. <b>Results:</b> We identified a <i>CHCHD2</i> p.(Phe84LeufsTer6) frameshift variant in two unrelated patients and report the first PD case of S2025-01-01T00:00:00Z2025 Dec2026-05-27T03:20:43.632Z2026-05-27T03:12:04.371ZS-EPMC127325954146515510.3390/genes16121482