摘要
目的报道膜联蛋白A11(ANXA11)基因突变所致肌萎缩侧索硬化(ALS)合并额颞叶痴呆(FTD)病例。方法收集1例ALS-FTD患者的临床表现、影像学检查等资料,并对先证者及其儿子行基因检测。结合文献复习收集ANXA11基因突变相关的ALS、FTD、ALS-FTD的临床研究,分析讨论ALS-FTD的临床特征。结果先证者为54岁女性,主要临床表现为进行性加重的构音障碍、失语、认知损害。头颅MRI示左侧颞叶局限性萎缩伴胶质增生。基因检测示先证者及其儿子ANXA11基因c.119位点A>G(p.D40G)杂合突变,临床疑诊ALS-FTD。结论ANXA11基因c.119A>G(p.D40G)突变患者多表现为单纯延髓麻痹,本例患者合并额颞叶痴呆,提示该基因位点突变也可导致认知损害。
Aim To report a case of ALS-FTD with annexin A11(ANXA11)mutation.Methods Clinical manifestations,imaging and other medical information of the proband were collected.Blood samples of the proband and his son were collected for genetic testing.Previously published case reports or clinical studies involving ANXA11 mutation related ALS,FTD,and ALS-FTD patients were reviewed.Clinical characteristics of ALS-FTD were summarized.Results The proband was a 54-year-old female with progressive dysarthria,accompanied by possible aphasia,significant cognitive,and remarkable depression and anxiety.Brain MRI showed localized atrophy of the left temporal lobe with gliosis.Genetic testing showed that both the patient and her son had a heterozygous mutation of ANXA11 gene,c.119A>G(p.D40G).The patient was diagnosed with“possible ALS-FTD spectrum”.Conclusion Based on previous literature reports,the c.119A>G(p.D40G)mutation of ANXA11 gene mostly leads to isolated bulbar palsy.This patient also presented with frontotemporal dementia,suggesting that ANXA11 c.119A>G mutation may manifested as cognitive impairment as well.
作者
马小茜
丁晶晶
陈科良
吴婕
肖朕旭
李翔
赵倩华
MA Xiao-xi;DING Jing-jing;CHEN Ke-liang;WU Jie;XIAO Zhe-nxu;LI Xiang;ZHAO Qian-hua(Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;Yizheng People’s Hospital,Yizheng 211400,China;Institute of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;National Clinical Research Center for Aging and Medicine,Huashan Hospital,Fudan University,Shanghai 200040,China;MOE Frontiers Center for Brain Science,Fudan University,Shanghai 200040,China)
出处
《中国临床神经科学》
2022年第5期550-556,共7页
Chinese Journal of Clinical Neurosciences
基金
促进市级医院临床技能与临床创新三年行动计划课题(编号:SHDC2020CR4007)
国家自然科学基金课题(编号:82071200)。
