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A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
  1. Alisdair McNeill1,
  2. Raquel Duran2,
  3. Derralynn A Hughes3,
  4. Atul Mehta3,
  5. Anthony H V Schapira1
  1. 1Department of Clinical Neurosciences, Institute of Neurology, UCL Medical School, London, UK
  2. 2Department of Molecular Neuroscience, Institute of Neurology, London, UK
  3. 3Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK
  1. Correspondence to Professor Anthony H V Schapira, Department of Clinical Neurosciences, Rowland Hill St., London NW3 2PF, UK; a.schapira{at}ucl.ac.uk

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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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