摘要
目的探讨肯尼迪病的临床、电生理与分子遗传学特征,为提高该病的早期诊断率提供帮助。方法收集自2013年12月至2018年3月在河南省人民医院神经内科就诊的13例肯尼迪病患者的临床资料,采用毛细血管电泳法检测所有患者雄激素受体(AR)基因1号外显子(CAG)异常重复扩增次数。结果13例患者均为慢性病程,主要以四肢肌肉萎缩、舌肌萎缩和球麻痹为临床表现。10例患者出现乳房女性化,11例患者性激素水平紊乱。电生理检查显示多数患者感觉神经动作电位波幅降低;运动单位电位时限增宽,波幅增高;出现纤颤电位、束颤电位及正锐波等自发电活动。13例患者均可见AR基因1号外显子(CAG)异常重复扩增,重复次数为40~54次。结论肯尼迪病以下运动神经元系统损害、球麻痹以及激素功能紊乱为主要临床特征,电生理表现为神经源性损害,AR基因突变检测是诊断金标准。
Objective To explore the clinical,electrophysiological and molecular genetics features of Kennedy disease(KD)which might contribute to early diagnosis and avoid misdiagnosis of KD. Methods The clinical and electrophysiological data of 13 patients with KD,admitted to our hospital from December 2013 to March 2018,were retrospectively analyzed.The(CAG)repeats in the exon 1 of androgen receptor(AR)gene were conducted by capillary electrophoresis. Results All patients appeared chronic course.Progressive weakness of limbs and muscular atrophy,including lingual muscle and bulbar muscle,were the specific clinical characteristics.Ten patients presented with barymastia and 11 patients with hormonal imbalance.Electromyography(EMG)showed decline of sensory nerve action potential amplitude in most patients.A widespread neuronal damage,such as increased duration of motor unit action potential,fibrillation potential,fascicular potential and positive sharp wave,could be detected.AR gene mutations were detected in all 13 patients.The number of(CAG)repeats expansion in exon 1 of AR gene ranged from 40 to 54. Conclusions The impairment of lower motor neuron,bulbar palsy and hormonal imbalance are the main clinical features in patients with KD.EMG shows chronic widespread neuronal damage.AR gene mutation detection plays a vital role in the final diagnosis of KD.
作者
李书剑
王丽丽
秦灵芝
邵文君
李玮
Li Shujian;Wang Lili;Qing Lingzhi;Shao Wenjun;Li Wei(Department of Neurology,Henan Provincial People's Hospital,Zhengzhou 450003,China)
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2019年第2期166-169,共4页
Chinese Journal of Neuromedicine