A Chinese pedigree of familial encephalopathy with neuroserpin inclusions bodies
10.3760/cma.j.cn113694-20201102-00839
- VernacularTitle:家族性神经丝氨酸蛋白酶抑制剂包涵体脑病一家系研究
- Author:
Shuai CHEN
1
;
Shuang HE
;
Mi PANG
;
Wei LI
;
Shujian LI
;
Jiewen ZHANG
Author Information
1. 河南省人民医院（郑州大学人民医院）神经科 450003
- Keywords:
Familial encephalopathy with neuroserpin inclusions bodies;
Dementia;
Epilepsies;
Myoclonus;
SERPINI1 gene
- From:
Chinese Journal of Neurology
2021;54(7):649-654
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.
