Mutations in glucocerebrosidase are a major genetic risk factor for Parkinsons disease and increase susceptibility to dementia in a Flanders-Belgian cohort
Abstract: Objective: To investigate the frequency of glucocerebrosidase (GBA) mutations in a Flanders-Belgian Parkinson's disease (PD) patient cohort and to assess genotype-phenotype correlations. Methods: We performed an in-depth sequencing of all coding exons of GBA in 266 clinically well characterized PD patients and 536 healthy control individuals. Results: We identified rare, heterozygous GBA mutations in 12 PD patients (4.5%) and in 2 healthy control individuals (0.37%), confirming the genetic association of GBA mutations with PD in the Flanders-Belgian population (p < 0.001). The pat... Mehr ...
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Dokumenttyp: | acceptedVersion |
Erscheinungsdatum: | 2016 |
Schlagwörter: | Biology / Human medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27085739 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/10067/1351010151162165141 |