Background: The most common genetic risk factor for Parkinson's disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson's disease from a single large population. Methods: The GBA1 gene was assessed in 3402 Dutch Parkinson's disease patients using next-generation sequencing. Frequencies were compared with Dutch controls (n = 655). Family history of Parkinson's disease was compared in carriers and noncarriers. Results: Fifteen percent... Mehr ...
| Verfasser: |
den Heijer, Jonas M.
Cullen, Valerie C.
Quadri, Marialuisa
Schmitz, Arnoud
Hilt, Dana C.
Lansbury, Peter
Berendse, Henk W.
van de Berg, Wilma D.J.
de Bie, Rob M.A.
Boertien, Jeffrey M.
Boon, Agnita J.W.
Contarino, M. Fiorella
van Hilten, Jacobus J.
Hoff, Jorrit I.
van Mierlo, Tom
Munts, Alex G.
van der Plas, Anne A.
Ponsen, Mirthe M.
Baas, Frank
Majoor-Krakauer, Danielle
Bonifati, Vincenzo
van Laar, Teus
Groeneveld, Geert J. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2020 |
| Reihe/Periodikum: |
den Heijer , J M , Cullen , V C , Quadri , M , Schmitz , A , Hilt , D C , Lansbury , P , Berendse , H W , van de Berg , W D J , de Bie , R M A , Boertien , J M , Boon , A J W , Contarino , M F , van Hilten , J J , Hoff , J I , van Mierlo , T , Munts , A G , van der Plas , A A , Ponsen , M M , Baas , F , Majoor-Krakauer , D , Bonifati , V , van Laar , T & Groeneveld , G J 2020 , ' A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands ' , Movement Disorders , vol. 35 , no. 9 , pp. 1667-1674 . https://doi.org/10.1002/mds.28112 |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-26846263 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://research.vumc.nl/en/publications/f40f6fe2-0b48-45e6-816f-9c125fa3fcaa |
