CSF1R基因新位点突变致遗传性弥漫性白质脑病合并球状轴索1例  

Hereditary diffuse leukoencephalopathy with spheroids caused by a novel locus mutation in CSF1R gene:a case report and literature review

作　　者：韩璐 张博伦 常莉莎 石松鑫 张江 Han Lu;Zhang Bolun;Chang Lisha;Shi Songxin;Zhang Jiang(Department of Neurology 2,Affiliated Hospital of North China University of Science and Technology,Tangshan 063000,China;Department of Medical Imaging,Affiliated Hospital of North China University of Science and Technology,Tangshan 063000,China)

机构地区：[1]华北理工大学附属医院神经内二科,唐山063000 [2]华北理工大学附属医院医学影像科,唐山063000

出　　处：《中国综合临床》2025年第1期67-70,共4页Clinical Medicine of China

基　　金：河北省医学科学研究课题计划(20221524)。

摘　　要：遗传性弥漫性白质脑病合并球状轴索(hereditary diffuse leukoencephalopathy with spheroids,HDLS)病例罕见,由5号染色体上集落刺激因子1受体(colony-stimu-lating factor 1 receptor,CSF1R)基因发生突变所致。本资料报道1例青年女性HDLS患者,主要表现为记忆力减退、认知障碍、行动迟缓、精神行为异常,基因检测提示CSF1R基因发生错义突变。Hereditary diffuse leukoencephalopathy with spheroids(HDLS)is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor(CSF1R)gene on chromosome 5.In this paper,we report a case of a young female patient with HDLS,mainly characterized by memory loss,cognitive impairment,delayed movement,and abnormal mental and behavioral states.Genetic testing revealed a missense mutation in the CSF1R gene.

关 键 词：遗传性弥漫性白质脑病 集落刺激因子1受体 基因突变 认知障碍 

分 类 号：R74[医药卫生—神经病学与精神病学]