An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia  

作　　者：Jingying Wu Taotao Liu Benyan Zhang Chang Liu Xinghua Luan Li Cao 

机构地区：[1]Department of Neurology,Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China [2]Department of Neurology,The First Hospital Affiliated to Anhui University of Science&Technology,Huainan 235099,China [3]Department of Pathology,Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [4]Department of Ophthalmology,Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China

出　　处：《Translational Neurodegeneration》2023年第1期601-603,共3页转化神经变性病（英文）

基　　金：supported by the grants from National Natural Science Foundation of China(82071258);Program for Outstanding Medical Academic Leader of Shanghai(2022LJ011).

摘　　要：Adult-onset leukoencephalopathy with spheroids and pigmented glia(ALSP)is a genetic disease character-ized by progressive cognitive,movement and neuropsy-chiatric disorders,bilateral periventricular white mat-ter hyperintensity in fluid attenuated inversion recovery(FLAIR)and diffuse weighted imaging(DWI)sequences,and axonal spheroids and pigmented microglia by brain biopsy.Heterozygous variants in CSF1R(colony stimulat-ing factor 1 receptor)were firstly associated with ALSP(CSF1R-ALSP)[1].Later,variants in AARS2(encoding alanyl-transfer tRNA synthetase 2)were found patho-genic for autosomal recessive ALSP patients(AARS2-ALSP)[2].However,there is still a group of patients negative for mutations in both genes.Here,we report an autosomal-recessive ALSP family associated with AARS1 mutation.

关 键 词：AXONAL ENCEPHALOPATHY ventricular 

分 类 号：R742[医药卫生—神经病学与精神病学]