不同表型的Gerstmann-Sträussler-Scheinker综合征家系研究  

Study of a family with different phenotypes of Gerstmann-Straussler-Scheinker syndrome

作　　者：王屹豪 陈忠云 孔雨 岳爱玲 蒋德明 褚敏 武力勇[1] 叶红[1] Wang Yihao;Chen Zhongyun;Kong Yu;Yue Ailing;Jiang Deming;Chu Min;Wu Liyong;Ye Hong(Department of Neurology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《中华神经科杂志》2025年第2期161-168,共8页Chinese Journal of Neurology

基　　金：首都卫生科研发展专项(CFH2024-2-2018)。

摘　　要：目的:探讨携带PRNP基因P102L突变的Gerstmann-Str?ussler-Scheinker综合征(GSS)家系中GSS患者的不同临床表型特点及辅助检查结果的差异。方法:收集首都医科大学宣武医院神经内科2024年1月收治的1个携带PRNP基因P102L突变的GSS家系,对先证者进行神经心理学、影像学、脑电图、脑脊液检查和皮肤实时震荡诱导转化(RT-QuIC)及基因检测。同时对其家系成员进行调查分析,对部分家系成员进行皮肤RT-QuIC、基因检测及神经心理学评估。结果:该GSS家系4代成员中,有先证者和先证者父亲、弟弟、叔叔及堂哥共5例GSS患者,且先证者及其弟弟、堂哥均携带PRNP基因P102L突变,先证者儿子为PRNP基因P102L突变携带者。先证者为女性,53岁,为典型GSS表型,首发症状为共济失调,脑脊液14-3-3蛋白阴性,头颅磁共振成像未见异常,皮肤及脑脊液RT-QuIC检测结果为阴性。先证者堂哥为典型GSS表型,皮肤RT-QuIC检测结果为阴性;先证者弟弟为类克-雅病型GSS表型,首发症状为快速进展性痴呆,皮肤RT-QuIC检测结果为阳性。先证者父亲、叔叔的首发症状均为共济失调,目前已去世,未进行基因检测。先证者儿子为基因突变携带者,目前无临床症状。结论:在同一GSS家系中,不同家系成员可能出现不同的临床表型,且不同表型的GSS在RT-QuIC检测结果上存在差异。Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Straussler-Scheinker syndrome(GSS)patients in the same family with GSS carrying a P102L mutation in the PRNP gene.Methods:A family with GSS carrying a P102L mutation in the PRNP gene,which was identified and treated at the Department of Neurology,Xuanwu Hospital,Capital Medical University in January 2024 was collected.A comprehensive evaluation was conducted on the proband,including neuropsychological examination,imaging studies,electroencephalogram,cerebrospinal fluid(CSF)analysis,real-time quaking-induced conversion(RT-QuIC)assay of skin biopsy samples,and genetic testing.At the same time,a survey and analysis were conducted on the family members.Skin RT-QuIC,genetic testing and neuropsychological evaluation were performed on some of the family members.Results:Among the 4-generation members of the GSS family,there were 5 GSS patients,including the proband′s father,younger brother,uncle and cousin.The proband,her younger brother and cousin all carried the P102L mutation in the PRNP gene,and her son was a carrier of the P102L mutation in the PRNP gene.The proband was a 53 years old female,and had a typical GSS phenotype,with the initial symptom of ataxia.The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging.The skin and CSF RT-QuIC test results of the proband were both negative.The cousin of the proband had a typical GSS phenotype,and his skin RT-QuIC test result was negative.The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type,with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result.The first symptoms of the proband′s father and uncle were both ataxia,and they had passed away without undergoing genetic testing.The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms.Conclusion:Different family members in the sam

关 键 词：Gerstmann-Straussler-Scheinker病 共济失调 痴呆 PRNP基因 实时震荡诱导转化 

分 类 号：R741[医药卫生—神经病学与精神病学]