Objective: to investigate the prevalence and clinical features of parkinsonism in a cohort of 21 GD patients and their relatives.

Background: GD is a lysosomal storage disorder caused by GBA1 mutations with a large range of phenotypes. Type 1 GD is the most frequent. GBA1 mutations are by far considered the major genetic risk factor for Parkinson’s Disease (PD). As a matter of fact increased risk of developing PD has been observed in both GD patients and carriers.

Methods: After signed informed consent, we evaluated 21 genetically characterized GD patients under enzymatic replacement therapy and their relatives. We performed an extensive interview focused on non-motor symptoms and a neurological examination.

Results: Mean age of our cohort of GD patients was 43 y.o. The majority (16; 76%) carried at least one N370S allele: five homozygous (23%) and eleven compound heterozygous (52%). Three (14%) carried at least one L444P allele of whom one was homozygous (5%). The majority (80%) of GD patients were diagnosed during childhood after detecting hepatosplenomegaly and thrombocytopenia. Eleven patients (52%) displayed neurologic manifestations, seven (33%) of which showed parkinsonian features, especially reduced limb synkinesis and tremor (4, 19%), rigidity and bradykinesia (3; 14%). One patient (1/21, 5%) was diagnosed with PD at 52 years. Nine GD patients (42%) showed non-motor symptoms, especially RBD (6; 28%), constipation (4; 19%) and depression (3; 14%). In 15 (71%) GD families at least one relative displayed parkinsonian symptoms and in 10 (47%) cases there was a family diagnosed with PD.

Conclusions: The studied GD cohort showed an high incidence of parkinsonian non-motor symptoms (42%) which could represent prodromal markers of PD and also motor signs (33%). The incidence of PD was increased in relatives of GD patients. The characterization of GD patients and their relatives with parkinsonism may help to elucidate the mechanisms underlying this association and potential prognostic indicators for PD.

References: O. Neudorfer et al,, Occurrence of Parkinson’s syndrome in type I Gaucher disease, Q ; Med 1996; 89:691-694; G. Lopez et al., Clinical course and prognosis in patients with Gaucher disease and parkinsonism, Neurology, 2016

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MDS Abstracts - https://www.mdsabstracts.org/abstract/parkinsonian-features-in-a-cohort-of-gauchers-disease-gd-patients-and-relatives/