Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China  

作　　者：Yikun Chen Yan Shi Yuan Gao Yan Hu Linying Zhou Jingmei Hong Shirui Gan Xiang Lin Wanjin Chen Guorong Xu Jin He 

机构地区：[1]Department of Neurology and Institute of Neurology of First Affiliated Hospital,Institute of Neuroscience,and Fujian Key Laboratory of Molecular Neurology,Fujian Medical University,Fuzhou,Fujian 350005,China [2]Fujian Key Laboratory of Molecular Neurology,Institute of Neuroscience,Fujian Medical University,Fuzhou,Fujian 350005,China [3]Electron Microscopy Lab of Public Technology Service Center,Fujian Medical University,Fuzhou,Fujian 350005,China

出　　处：《Genes & Diseases》2024年第5期17-20,共4页基因与疾病（英文）

基　　金：the National Natural Science Foundation of China(No.82271412 to J.H.,82025012 to W.J.C.,U1905210 to W.J.C.).

摘　　要：Adult polyglucosan body disease(APBD)is a rare and highly heterogeneous glycogen storage disorder due to biallelic variants in GBE1.1 Typical APBD presentations include gait abnormalities with polyneuropathy,leukodystrophy,neurogenic bladder,and mild cognitive impairment.Differential diagnosis of APBD encompasses a large spectrum of conditions including axonal and demyelinating sensorimotor polyneuropathy,progressive spastic paraparesis,and leukodystrophies.

关 键 词：GBE BLADDER diagnosis 

分 类 号：R587.1[医药卫生—内分泌]