Article
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Neuroscience letters - 26 Aug 2016
Crosiers David, Verstraeten Aline, Wauters Eline, Engelborghs Sebastiaan, Peeters Karin, Mattheijssens Maria, De Deyn Peter P, Theuns Jessie, Van Broeckhoven Christine, Cras Patrick
Abstract excerpt
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...
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