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

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-de...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636217/
https://www.ncbi.nlm.nih.gov/pubmed/36333361
http://dx.doi.org/10.1038/s41531-022-00408-6
Descripción
Sumario: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.

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