Genetic and clinical pharmacology studies in GBA1-associated Parkinson's disease

Heijer, J.M. den (2022)

Doctoral Thesis

This thesis focusses on the further unravelling of one of the mechanisms involved in developing Parkinson's disease: the GBA1 gene, encoding the lysosomal enzyme GCase. Several questions are addressed: How prevalent are mutations in this gene in the Netherlands and does it affect disease onset (chapter 2 and 5)? What methodological challenges accompany the sequencing of this gene (chapter 3 and 4)? What biomarkers may be used in clinical trials targeting GCase (chapter 6)? And what are the effects of the novel GCase activator LTI-291, when first administered to healthy volunteers (chapter 7) and to GBA-PD patients (chapter 8)?

• Parkinson's disease
• Glucocerebrosidase
• Glucosylceramide
• Genetic counseling
• Next generation sequencing
• Clinical trial
• Hereditary
• Biomarkers
• Peripheral blood mononuclear cells

• All authors: Heijer, J.M. den
• Supervisor: Groeneveld, G.J.; Hilten, J.J. van
• Committee: Baas, F.; Gerven, J.M.A. van; Berg, W.D.J. van de; Warrenburg, B.P.C. van de
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2022-03-30