A family of adult-onset autosomal dominant leukodystrophy
10.3760/cma.j.cn115354-20200917-00742
- VernacularTitle:常染色体显性遗传成人型脑白质营养不良一家系研究
- Author:
Shuang HE
1
;
Shuai CHEN
;
Wei LI
;
Shujian LI
;
Jiewen ZHANG
Author Information
1. 河南省人民医院（郑州大学人民医院）神经内科，郑州 450003
- Keywords:
Adult-onset autosomal dominant leukodystrophy;
LMNB1 gene;
Gene mutation
- From:
Chinese Journal of Neuromedicine
2021;20(7):695-699
- CountryChina
- Language:Chinese
-
Abstract:
Objective: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 .
