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

Abstract

We thank Lackova et al. for their comments on our systematic review and meta-analysis regarding D313Y-variation in Fabry disease (FD) and for presenting their interesting findings.1,2 Although parkinsonism is not considered a typical FD manifestation,3 the reported prevalence of D313Y variant in this single-center cohort of patients with Parkinson disease was higher compared with the general population.2 Furthermore, misdiagnosis of multiple sclerosis (MS) in patients with an ultimate FD diagnosis has been previously reported, mandating the consideration of FD during differential diagnosis for MS, especially when atypical multisystemic findings or positive family history exists.4

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

“…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.…”

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

“…The publication by Palaiodimou et al 1 seems to have significant flaws in its data ascertainment and statistical evaluation:The estimate of p.D313Y frequency in the subgroup of patients is incorrectly calculated as 0.049 (0.02 is correct given the numbers provided in Figure 2).Two observational studies (ref. 37-1+39) contribute >60% of the positive cases.…”