Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

@article{Crosiers2016MutationsIG,
  title={Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.},
  author={David Crosiers and Aline Verstraeten and Eline Wauters and Sebastiaan Engelborghs and Karin Peeters and Maria Mattheijssens and Peter Paul De Deyn and Jessie Theuns and Christine Van Broeckhoven and Patrick Cras},
  journal={Neuroscience letters},
  year={2016},
  volume={629},
  pages={160-164}
}
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… CONTINUE READING
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