TY -的T1 -编者注:< em > D313Y < / em >变体Fabry疾病:系统回顾和荟萃分析JF -神经学乔-神经病学SP - 1074 LP - 1074 - 10.1212 / WNL。首页0000000000207414六世- 100 - 22盟Aravind Ganesh AU -史蒂文Galetta Y1 - 2023/05/30 UR - //www.ez-admanager.com/c首页ontent/100/22/1074.1.abstract N2 - Fabry疾病(FD)是一种遗传性神经系统障碍引起的酶的缺乏alpha-galactosidase a Palaiodimou博士等人进行了系统回顾和荟萃分析40研究报告D313Y作为单个发生变异的牛乳糖α(GLA)基因在不同人群有或没有FD的临床表现。他们得出的结论是,D313Y变异似乎与非典型,与主要神经FD症状轻微的迟发性的表型。他们建议监测神经受累患者识别D313Y-positive潜伏或early-FD病理学,可能有资格获得酶替代疗法或伴侣的治疗。作为回应,Lackova博士等人引用最近的研究发现D313Y变体连续127例患者中4例帕金森病,等位基因频率的5倍,在一般人群中,和类似于180年另一项研究发现连续筛选多发性硬化症患者,6人的变体。他们呼吁进一步的流行病学、临床和基础研究的研究更好地理解这种变体的作用不同患者神经系统疾病,特别是因为其他作者声明没有致病意义。应对这些评论,作者指出,而帕金森症并不被视为典型的FD表现,误诊的多发性硬化症患者的一种终极FD诊断之前已经报道过了。作者还报告,更新他们的分析与调查结果由Lackova博士等人共享池D313Y变异患者神经障碍的比例增加到0.8%,重要的子群与患者组相比差异与心脏或肾脏表现(尽管最初没有观察到显著差异)。总的来说,这交易突显出我们进化的理解潜在的协会D313Y变异中心和外围神经系统表现。Fabry疾病(FD)是一种遗传性神经系统障碍引起的酶的缺乏alpha-galactosidase a Palaiodimou博士40等人进行了系统回顾和荟萃分析研究报告D313Y作为单个发生变异牛乳糖α(GLA)基因在不同人群有或没有FD的临床表现。 They concluded that D313Y variation seems to correlate with an atypical, mild late-onset phenotype with predominantly neurologic FD manifestations. They recommended monitoring for neurologic involvement to identify D313Y-positive patients with latent or early-FD pathology, who may qualify for enzyme-replacement therapy or chaperone treatment. In response, Dr. Lackova et al. cite their recent study which found D313Y variants in 4 of 127 consecutive patients with Parkinson disease, with an allele frequency 5 times that reported in the general population, and similar to that found in another study of 180 consecutively screened patients with multiple sclerosis, 6 of whom had the variant. They call for further epidemiologic, clinical, and basic research studies to better understand the role of this variant in patients with different neurologic disorders, especially because other authors have stated it has no pathogenic significance. Responding to these comments, the authors note that whereas parkinsonism is not considered a typical FD manifestation, misdiagnosis of multiple sclerosis in patients with an ultimate FD diagnosis has been previously reported. The authors also report that on updating their analysis with the findings shared by Dr. Lackova et al. the pooled proportion of D313Y variation among patients with neurologic disorders increased to 0.8% with significant subgroup differences compared with patient cohorts with cardiac or renal manifestations (whereas originally no significant differences were observed). Overall, this exchange highlights our evolving understanding of the potential association of the D313Y variation with central and peripheral neurologic manifestations. ER -