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Supporting data for thesis "A Study of Glucocerebrosidase Gene Variants and Enzyme Activity in Parkinson's Disease"

posted on 2023-08-25, 03:44 authored by Cheuk Nam Rachel Lo

This is the data supporting my thesis "A Study of Glucocerebrosidase Gene Variants and Enzyme Activity in Parkinson's Disease". The dataset contains demographics, clinical data, and genetic sequencing data of a cohort of patients with Parkinson's disease.

Parkinson's disease (PD) is the most prevalent movement disorder, characterised by motor features of bradykinesia, rigidity, tremor, and gait impairment. In addition to motor features, a combination of non-motor symptoms (NMS), such as anxiety, depression, cognitive impairment, hyposmia, urinary, and gastrointestinal symptoms may be present. Mutations in the glucocerebrosidase gene (GBA) are the most common genetic risk factor for PD and cause depletion of the activity of the lysosomal enzyme glucocerebrosidase (GCase). Current evidence shows that clinical features in PD patients with GBA mutations present worse clinical features in terms of earlier age of onset, more frequent cognitive impairment, and higher prevalence of (NMS).

While GCase level is significantly reduced in GBA carriers, and GBA mutation carriers show worse clinical features, it is open to question if lower GCase activity is also associated with worse clinical outcomes in PD.

The aims of the current study are:

  1. To explore the prevalence of GBA variants
  2. To compare the level of GCase enzymatic activity between PD patients and healthy controls
  3. To study the association among GBA genetic variants, GCase enzymatic activity and clinical features in PD patients in Hong Kong


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