Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations  

作　　者：Jian Sun Chao Quan Su-Shan Luo Lei Zhou Chong-Bo Zhao 

机构地区：[1]Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China

出　　处：《Chinese Medical Journal》2017年第24期3021-3022,共2页中华医学杂志（英文版）

摘　　要：To the Editor：Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene （AARS2） have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patients （9/15） present with ovarian failure,described as ＆quot;ovarioleukodystrophy.＆quot;[1-4] Herein,we report a female patient with progressive adult-onset leukodystrophy without ovarian failure due to compound heterozygous mutations in AARS2.To the Editor：Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene （AARS2） have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patients （9/15） present with ovarian failure,described as ＆quot;ovarioleukodystrophy.＆quot;[1-4] Herein,we report a female patient with progressive adult-onset leukodystrophy without ovarian failure due to compound heterozygous mutations in AARS2.

分 类 号：R0[医药卫生]