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- Parkinson's disease
- olfactory dysfunction
- Lewy body
- movement disorders
Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations.1 Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson's disease (PD) risk.1 Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA).2 We used the non-motor symptoms scale (NMSS) and Parkinson's disease questionairre (PDQ-39) to quantify NMS in PD-GBA.3 The age related PD risk in heterozygous glucocerebrosidase carriers has been reported in familial PD.4 Here, we calculate PD risk in obligate carrier relatives (parents) of Type I GD patients.
Patients and methods
PD-GBA patients were identified by Sanger sequencing of the glucocerebrosidase gene in 220 sporadic PD (PD-S) patients. The G2019S mutation in LRRK2 had previously been excluded. A control group of glucocerebrosidase mutation negative PD-S were selected from the same cohort. Each participant had the following administered: 40 item smell identification test (SIT), Montreal Cognitive assessment (MoCA), Parts I–IV of Unified Parkinson's Disease Rating Scale (UPDRS), NMSS, PDQ-39 and Rapid Eye Movement (REM) Sleep Behaviour Disorder Questionnaire (RBDQ). Statistical analysis was performed using SPSS (version 17). The proportion of participants with a MoCA score <26/30 (signifying mild cognitive impairment) or RBDQ >6/10 (signifying possible REM sleep behaviour disorder) was compared using the χ2 test.3 In parallel, family history data were obtained from 83 …
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