Objective: To determine the prevalence of Fabry disease (FD) among patients with Parkinson’s disease (PD).

Background: Increased prevalence of PD disease has been previously reported in subjects with FD carrying alpha-galactosidase (GLA) mutations and their first line relatives. [1] Moreover, decreased alpha-galactosidase A (AGALA) enzymatic activity has been reported among cases with Parkinson’s disease compared to controls. [2] This points to a potential relationship between these 2 disorders. Nevertheless, the prevalence of FD among PD patients has not been systematically studied so far.

Method: We recruited 209 consecutive patients with PD in a single tertiary movement disorders center in Kosice, Slovakia. Standard determination of AGALA activity and next generation sequencing-based GLA sequencing were performed in a routine diagnostic setting at CENTOGENE AG.

Results: The mean age of our patients was 68.0±9.3 years, 113 were men (54.2%) and mean disease duration was 6.9±5.0 years. GLA variants were found in 2/115 (1,7%) PD subjects tested for GLA mutations based on the protocol. Both subjects were females and were carrying heterozygous c.937G>T, p.(Asp313Tyr) GLA gene variant.

Conclusion: The results of this study suggest possible relationship between FD and PD in a small proportion of cases. Nevertheless, the GLA variant found in our cohort is classified as variant of unknown significance. Therefore, its pathogenic causative role in the context of PD needs to be further elucidated and these findings should be interpreted with caution.

References: 1. Wise AH, Yang A, Naik H, et al. Parkinson’s disease prevalence in Fabry disease: A survey study. Mol Genet Metab Rep 2017;14:27-30. 2. Alcalay RN, Wolf P, Levy OA, et al. Alpha galactosidase activity in Parkinson’s disease. Neurobiol Dis 2018;112:85-90.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/prevalence-of-fabry-disease-among-patients-with-parkinsons-disease/