Session Information
Date: Monday, October 8, 2018
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Hall 3FG
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives.
Background: GD is a lysosomal storage disorder caused by GBA1 mutations which are by far considered the major genetic risk factor for PD. An increased risk of developing PD has been observed in both GD patients and carriers.
Methods: We evaluated 21 GD patients and their relatives by performing a neurological examination and an interview focused on Parkinson’s Disease (PD) familiarity and non-motor symptoms.
Results: N370S was the most common mutation found in our cohort (16; 76%) whereas L444P was present in three patients (14%) of whom only one was homozygous (5%). The majority of them (80%) was diagnosed during childhood after detecting hepatosplenomegaly and thrombocytopenia. Neurologic manifestations were detected in eleven patients (52%), seven (33%) of which showed parkinsonian features, especially reduced limb synkinesis and tremor (4, 19%), rigidity and bradykinesia (3; 14%). Only one patient (1/21, 5%) was diagnosed with PD at the age of 52. Non-motor symptoms were present in nine GD patients (42%), especially RBD (6; 28%), constipation (4; 19%) and depression (3; 14%). Familiarity for parkinsonian symptoms was found in 15 (71%) GD families and in 10 (47%) of them there was at least one family member with PD.
Conclusions: We found an high incidence of motor and non-motor parkinsonian symptoms in our GD cohort. The incidence of PD was also increased in their relatives. Characterizing GD patients/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.
To cite this abstract in AMA style:
I. Trezzi, E. Monfrini, E. Cassinerio, I. Motta, F. Nascimbeni, F. Carubbi, N. Bresolin, G. Comi, M. Cappelllini, A. Di Fonzo. Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/gauchers-disease-gd-and-parkinsonism-an-analysis-from-patients-to-relatives/. Accessed June 15, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/gauchers-disease-gd-and-parkinsonism-an-analysis-from-patients-to-relatives/