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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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
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author 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
author_facet 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
author_sort Kovanda, Anja
collection PubMed
description 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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spelling pubmed-96362172022-11-06 A multicenter study of genetic testing for Parkinson’s disease in the clinical setting 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 Parkinsons Dis Brief Communication 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. Nature Publishing Group UK 2022-11-04 /pmc/articles/PMC9636217/ /pubmed/36333361 http://dx.doi.org/10.1038/s41531-022-00408-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Brief Communication
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
A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title_full A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title_fullStr A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title_full_unstemmed A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title_short A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
title_sort multicenter study of genetic testing for parkinson’s disease in the clinical setting
topic Brief Communication
url 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
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