摘要目的:对常染色体显性遗传成人型脑白质营养不良(ADLD)一家系的临床资料和基因突变进行分析。方法:回顾性分析河南省人民医院神经内科2020年1月收治的常染色体显性遗传ADLD一家系共4代人(其中5例患者)的临床和影像学资料，对先证者及部分家系内成员的外周血基因组DNA进行全外显子测序分析。采用荧光定量PCR验证先证者及家系内成员的致病基因。结果:先证者及家系中其他患者的临床表现包括自主神经功能障碍(一过性低血糖及瞳孔散大)、慢性痉挛性截瘫、运动障碍等，神经影像学特征为广泛脑白质、小脑脚、胼胝体及脊髓受累。全外显子测序分析显示先证者核纤层蛋白B1( LMNB1)基因1~11外显子单倍重复。荧光定量PCR检测结果证实先证者及2个妹妹 LMNB1基因1、5、11外显子单倍重复。 结论:LMNB1基因1~11外显子单倍重复可导致ADLD，诊断该病时应综合分析临床表现、神经影像和遗传学特征。

abstractsObjective:To explore the clinical data and gene mutation of a family of adult-onset autosomal dominant leukodystrophy (ADLD).Methods:The clinical data and neuroimaging features of a family of ADLD (4 generation, 5 patients), admitted to our hospital in January 2020, were retrospectively analyzed. Whole exome sequencing was performed in DNA from peripheral blood of the proband and some family members. Fluorescent quantitative PCR was used to verify the pathogenic genes of the proband and family members.Results:The clinical manifestations included abnormal autonomic dysfunction (transient hypoglycemia and dilated pupil), chronic spastic paraplegia, and movement disorder in the proband and other patients in the family; their neuroimaging features included extensive involvement of the white matter, cerebellar peduncles, corpus callosum, and spinal cord. A duplication of 1-11 coding exons in the LMNB1 gene was identified in the proband. Fluorescent quantitative PCR verified that duplication of 1, 5 and 11 coding exons in the LMNB1 gene was identified in the proband and 2 sisters. Conclusion:The duplication of 1-11 coding exons in the LMNB1 gene can cause ADLD, and the clinical manifestations, neuroimaging and genetic characteristics should be comprehensively analyzed in the diagnosis of ADLD .