A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
Journal
NPJ Parkinson's disease
ISSN: 2373-8057
Titre abrégé: NPJ Parkinsons Dis
Pays: United States
ID NLM: 101675390
Informations de publication
Date de publication:
04 Nov 2022
04 Nov 2022
Historique:
received:
15
03
2022
accepted:
05
10
2022
entrez:
5
11
2022
pubmed:
6
11
2022
medline:
6
11
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36333361
doi: 10.1038/s41531-022-00408-6
pii: 10.1038/s41531-022-00408-6
pmc: PMC9636217
doi:
Types de publication
Journal Article
Langues
eng
Pagination
149Subventions
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : V3-1911
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : V3-1911
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : V3-1911
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : V3-1911
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : J3-9280
Organisme : Javna Agencija za Raziskovalno Dejavnost RS (Slovenian Research Agency)
ID : V3-1911
Organisme : Hrvatska Zaklada za Znanost (Croatian Science Foundation)
ID : IP-2019-04-7276
Organisme : Hrvatska Zaklada za Znanost (Croatian Science Foundation)
ID : IP-2019-04-7276
Organisme : Hrvatska Zaklada za Znanost (Croatian Science Foundation)
ID : IP-2019-04-7276
Organisme : Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja (Ministry of Education, Science and Technological Development of the Republic of Serbia)
ID : 175090
Informations de copyright
© 2022. The Author(s).
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