TTR Val50Leu突变导致家族性淀粉样多发性神经病的临床和电生理研究  

Clinical and electrophysiological features of familial amyloid polyneuropathy induced by TTR Val50Leu mutation

作　　者：杨硕[1] 陈娜[1] 潘华[1] 翦凡[1] 张磊[1] 王颖[1] 

机构地区：[1]北京市首都医科大学附属北京天坛医院神经病学中心临床神经生理科,100050

出　　处：《中国神经免疫学和神经病学杂志》2017年第6期395-400,共6页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的分析TTR Val50Leu突变导致家族性淀粉样多发性神经病的临床和电生理特点。方法对一个由TTR Val50Leu突变导致的家族性淀粉样多发性神经病家系进行报道,先证者以足部疼痛为首发症状,2年内逐渐向小腿及上肢进展,并出现自主神经症状。通过对先证者及其家系中相关者进行临床表现、电生理检查及基因检测,分析该病的临床和电生理特点。结果先证者的外祖父、母亲、舅舅、弟弟(其外祖父、母亲、舅舅已故)与其具有相似症状。先证者电生理检查上肢正中神经感觉传导受累,运动正常,尺神经的感觉传导及运动传导均正常,但尺神经F波异常,下肢胫神经和腓总神经的感觉传导及运动传导均未见肯定波形,腓肠神经受累,交感皮肤反应未引出。其弟弟上肢正中神经及尺神经改变同先证者,下肢胫神经运动波幅下降,腓总神经运动正常,交感皮肤反应四肢波幅降低,余同先证者。其女儿上述电生理检查未见异常。基因检测发现三者均在TTR基因exon2存在c.148G>T突变,TTR蛋白存在Val50Leu突变。结论 TTR Val50Leu突变导致的家族性淀粉样多发性神经病家系属早发型,以足部疼痛为首发症状,进展迅速,自主神经症状出现较早。电生理符合多发性神经病表现,早期可伴有交感皮肤反应波幅降低。Objective To analyze the clinical and electrophysiological characteristics of familial amyloid polyneuropathy caused by TTR Val50 Leu mutation.Methods A pedigree of familial amyloid polyneuropathy caused by TTR Val50 Leu mutation was reported.The proband presented with foot pain as the first symptom.The lower and upper extremities were progressively involved within 2 years,and autonomic symptoms also developed.The clinical and electrophysiological characteristics of the proband and his pedigree were analyzed through clinical manifestation,electrophysiological examination and genetic testing.Results The proband＇s grandfather,mother,uncle and brother（the former three had died）manifested as symptoms similar to him.For the proband,CMAPs of the median and ulnar nerves showed normal results,while CMAPs of the tibial and peroneal nerves were not elicited.F-wave minimum latency（Fmin）of the ulnar nerve was prolonged.SNAPs of the median,tibial,peroneal and sural nerves showed abnormal results,except for ulnar nerve.SSR was not elicited.For his brother,the impaired range of peripheral nerves was similar to the proband,but with lesser severity.SSR showed decreased amplitude.For his daughter,electrophysiological studies did not detect any abnormality.All the three patients＇ genes showed c.148 G〉T mutation in exon2 of TTR gene and Val50 Leu mutation in TTR protein.Conclusions TTR Val50 Leu FAP manifests as an early-onset and rapid-progression pattern.Usually,foot pain is the first symptom,and autonomic symptoms appear early.Electrodiagnosis is in line with the manifestation of polyneuropathy,and often accompanied by SSR abnormality.

关 键 词：家族性淀粉样多发性神经病 转甲状腺素蛋白 神经传导检测 交感皮肤反应 

分 类 号：R744[医药卫生—神经病学与精神病学]