Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis

Abstract

We read with great interest the meta-analysis of Palaiodimou et al.1 who evaluated prevalence and phenotypic characteristics of GLA D313Y variant carriers. Based on their results, the D313Y variant seems to correlate with an atypical, mild late-onset phenotype with predominantly neurologic manifestations of Fabry disease. We agree with their findings and would like to expand the spectrum of neurologic diagnoses associated with increased prevalence of the D313Y variant. As reported in our recent study,2 127 consecutive subjects with Parkinson disease (PD) were screened for the presence of GLA variants. The D313Y variant was identified in 4/127 subjects with allele frequency of 1.6% compared with 0.3% reported in the general population.3 Similarly, in our cohort of consecutively screened subjects with multiple sclerosis using the same methodology,2 the GLA D313Y variant was identified in 6/180 subjects (all female subjects), with an allele frequency of 1.7%, similar to that of PD subjects (previously unreported).