@article{作者Manini766 ={阿里安娜Manini和莱昂纳多Pantoni}, title ={脑小血管疾病的遗传原因},体积={100}={16},页面= {766 - 783}= {2023},doi = {10.1212 / WNL。出版商0000000000201720}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={脑小血管疾病(CSVD)包括各种影响大脑和实体,通常,全身小动脉、小动脉、小静首页脉,和毛细血管。CSVD的根本原因是不同的,有些是遗传。单基因CSVDs负责1 \ % {\ textendash} 5 \ %的中风和其他干扰。尽管许多基因参与,单基因的表型CSVD部分重叠。鉴于不同疾病的基因测试可以挑战和耗时,练习神经学家应该充分了解CSVD的遗传背景,应该能够选择患者进行遗传评估和要分析的基因。本综述的目的是总结临床、神经和non-neurologic,单基因CSVD神经影像的特性,并提供流程图用于临床实践指导神经学家。拟议的流程图和相应的表可以应用于三种不同的设置,根据演示:(1)缺血性中风或短暂性脑缺血发作,(2)脑出血,和(3)其他神经,non-neurologic,和/或单基因CSVD神经影像学特征,没有因为梗塞或出血中风的症状。创新艺人经纪公司=脑淀粉样血管病;CADASIL =脑常染色体显性遗传和皮层下梗死动脉病和脑白质病;CARASAL = cathepsin-A {\ textendash}相关动脉病中风和脑白质病; CSVD=cerebral small vessel disease; DADA2=deficiency of ADA2; HANAC=hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; HCHWA=Hereditary Cerebral Hemorrhage with Amyloidosis; ICH=Intracerebral Hemorrhages; IS=Ischemic Stroke; NGS=Next-Generation Sequencing; PADMAL=pontine autosomal dominant microangiopathy and leukoencephalopathy; RVCL-S=retinal vasculopathy with cerebral leukodystrophy and systemic manifestations; VUS=variants of unknown significance; WES=whole-exome sequencing; WMH=white matter hyperintensities}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/100/16/766}, eprint = {//www.ez-admanager.com/content/100/16/766.full.pdf}, journal = {Neurology} }