Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review

作者全名："Yang, Xiaoyue; Fang, Zhixu; Yan, Lisi; He, Xiaoya; Luo, Hanyu; Han, Ziyao; Gui, Jianxiong; Cheng, Min; Jiang, Li"

作者地址："[Yang, Xiaoyue; Fang, Zhixu; Yan, Lisi; Luo, Hanyu; Han, Ziyao; Gui, Jianxiong; Cheng, Min; Jiang, Li] Childrens Hosp Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Chongqing Key Lab Pediat, Minist Educ,Key Lab Child Dev & Disorders,Dept Ne, 136 Zhongshan Er Rd, Chongqing 400014, Peoples R China; [He, Xiaoya] Chongqing Med Univ, Childrens Hosp, Dept Radiol, Chongqing, Peoples R China"

通信作者："Jiang, L (通讯作者)，Childrens Hosp Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Chongqing Key Lab Pediat, Minist Educ,Key Lab Child Dev & Disorders,Dept Ne, 136 Zhongshan Er Rd, Chongqing 400014, Peoples R China."

来源：SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:000896016500009

JCR分区：Q3

影响因子：3

年份：2022

卷号：103

期号：　

开始页：137

结束页：147

文献类型：Article

关键词：Familial encephalopathy with neuroserpin; inclusion bodies; SERPINI1; Progressive myoclonus epilepsies

摘要："Background: Familial encephalopathy with neuroserpin inclusion bodies (FENIB), a rare neurogenetic disease, characterized by progressive cognitive decline and myoclonus and caused by pathogenic variants of the SERPINI1 gene that lead to the formation of neuroserpin inclusion bodies.Methods: We described the case of an Asian patient with FENIB associated with a pathogenic variant of SERPINI1 and summarized and analyzed the clinical characteristics of the case. In addition, we conducted a literature review of previously reported patients with this disease.Results: The patient, a 16-year-old Chinese girl, presented with progressive cognitive decline and myoclonus that had started at the age of 11 years. The girl was found to carry a de novo heterozygous c.1175G>A (p.G392E) variant of the SERPINI1 gene, which is a pathogenic variant according to the guidelines of the American College of Medical Genetics and Genomics. She had responded poorly to antiseizure medications (ASMs). At the last follow-up, her myoclonus was still out of control, and her self-care ability was poor. Our literature review revealed that 13 similar cases (including 9 cases in male patients) have been reported so far, in which six pathogenetic variations in SERPINI1, including G392E, were responsible for FENIB. All the patients presented with myoclonus, and 12 patients had experienced at least one other type of seizure. Further, observed in our case, 9 out of 12 patients did not respond to ASMs. Progressive cognitive decline was observed all the patients, and 10 out of 13 patients had dyskinesia. The median age of disease onset was 21 years, and the median age at the time of death was 33 years. Further, 9 out of 13 patients showed signs of cerebral and/or cerebellar atrophy. Finally, neuroserpin inclusion bodies were identified in six patients who underwent brain biopsy or autopsy.Conclusions: Pathogenic variants of SERPINI1 should be suspected in children with progressive cognitive decline and myoclonus, especially in those with progressive myoclonus epilepsy. Further, gene detection and brain bi-opsy are important means for the diagnosis of FENIB."

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