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A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
Kovanda, Anja; Racki, Valentino; Bergant, Gaber; Georgiev, Dejan; Flisar, Dusan; Papic, Elisa; Brankovic, Marija; Jankovic, Milena; Svetel, Marina; Teran, Natasa; Maver, Ales; Kostic, Vladimir S; Novakovic, Ivana; Pirtosek, Zvezdan; Rakusa, Martin; Vuletic, Vladimira; Peterlin, Borut.
Afiliação
  • Kovanda A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Racki V; Department of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
  • Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Georgiev D; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Flisar D; Artificial Intelligence Lab, Faculty of Computer and Information Sciences, University of Ljubljana, Ljubljana, Slovenia.
  • Papic E; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Brankovic M; Department of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
  • Jankovic M; Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Svetel M; Neurology Clinic, UCCS, Belgrade, Serbia.
  • Teran N; Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Kostic VS; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Novakovic I; Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Pirtosek Z; Institute of Human Genetics and Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Rakusa M; Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Vuletic V; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
  • Peterlin B; Department of Neurology, University Medical Centre Maribor, Maribor, Slovenia.
NPJ Parkinsons Dis ; 8(1): 149, 2022 Nov 04.
Article em En | MEDLINE | ID: mdl-36333361
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.

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Guideline Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Guideline Idioma: En Ano de publicação: 2022 Tipo de documento: Article