Chinese patients with adult onset leukodystrophy caused by CST3 variants  

作　　者：Yi Zhang Zhi-Ying Wu 

机构地区：[1]Department of Medical Genetics and Center for Rare Diseases,Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation,Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310009,China [2]Nanhu Brain-computer Interface Institute,Hangzhou,Zhejiang 314050,China [3]Department of Neurology,Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310009,China [4]MOE Frontier Science Center for Brain Science and Brain-machine Integration,School of Brain Science and Brain Medicine,Zhejiang University,Hangzhou,Zhejiang 310012,China

出　　处：《Journal of Genetics and Genomics》2024年第7期778-780,共3页遗传学报（英文版）

基　　金：supported by the grant(82230062)from the National Natural Science Foundation of China to Zhi-Ying Wu.

摘　　要：Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia units.The disorders are clinically diverse and display significant genetic variability.It is challenging to differentiate hereditary leukodystrophies,particularly those that present in adulthood,from acquired leukodystrophies and other genetic disorders,such as multiple sclerosis(MS)or hereditary spastic paraplegia(HSP)(Wei et al.,2021).Over the past few decades,a series of causative genes associated with leukodystrophies have been identified(Kohler et al.,2018).Nevertheless,a significant proportion of patients still lack a precise molecular diagnosis.

关 键 词：al. PATIENTS Kohler 

分 类 号：R741[医药卫生—神经病学与精神病学]