摘要
目的探讨Ⅰ～Ⅳ型脊髓性肌萎缩症（SMA）的临床表型与神经电生理特征、运动神经元生存基因（SMN）之间的关系。方法收集自2012年1月至2015年9月昆明医科大学第四附属医院神经内科和云南省第一人民医院遗传诊断中心就诊的85例SMA患者（婴儿型46例，其中Ⅰ型19例、Ⅱ型27例；少年型即Ⅲ型24例；成人型即Ⅳ型15例）的临床资料，分析其神经传导、肌电图检查结果及SMN基因（主要分析SMN1拷贝）缺失分析结果。结果Ⅰ～Ⅳ型SMA患者各有其临床特点．但主要特征表现为进行性加重的四肢弛缓性瘫痪。且发病年龄越小，临床表现越严重。43例患者行肌电图检查均呈神经源性损害．33例患者表现为广泛神经源性损害，下肢重于上肢，近端重于远端。成人型和少年型自发电位、募集电位无力收缩、复合肌肉动作电位波幅异常率均明显低于婴儿型。85例患者均行SMN1基因外显子7、8的缺失分析，共有61例检出SMN1基因外显子7和（或）8缺失，其中婴儿型缺失率高达95．7％（44／46），少年型缺失率为70．8％（17／24），成人型患者均未检出SMN1基因缺失。结论SMA患者的临床表型越严重，相应的电生理检查指标异常率也越高。SMN1基因外显子缺失造成SMA表型，但与疾病的严重程度无关。
Objective To explore the relations of clinical phenotypes of type I-IV spinal muscular atrophy （SMA） with neural electrophysiological features and survival motor neuron （SMN） gene. Methods A total of 85 patients with SMA, including 46 with infantile form in which 19 of type Ⅰ and 27 of type Ⅱ, 24 with juvenile form （type Ⅲ）, and 15 with adult form （type IV）, were involved in this clinical study. Their clinical data were analyzed. The neural conduction, needle electromyography （EMG） and SMN1 gene deletion were analyzed. Results There existed different clinical features among patients who suffered from type I to type IV SMA. However, the major clinical features of SMA were displayed by progressively aggravating of flaccid paralysis in muscles of the four limbs, and the younger of the patients, the more serious of the clinical manifestations. EMG exhibited neurogenic lesion in all 43 SMA patients, 33 patients presented generalized neurogenic lesions, and the abnormal degree of muscles in lower limbs was more severe than that of upper limbs, and the proximal muscles was more severe than that of the distal ones. The abnormal rate of spontaneous potential, weak contraction with raise potential and amplitude of compound motor active potential in adult and juvenile SMA were significantly lower than those in infantile SMA. SMN1 gene exon 7 and 8 were detected in all 85 patients with SMA. A total of 61 patients were found with deletion of exon 7 and/or 8 in SMN1 gene. Infantile SMA patients enjoyed 95.7% （44/46） detection rate, juvenile SMA patients enjoyed 70.8% （17/24） detection rate; no adult SMA patients were found with deletion ofexon 7 and/or 8 in SMN1 gene. Conclusions The more serious of clinical manifestations in SMA patients, the higher abnormality rate in electrophysiological tests. The exons deletion in SMN1 gene could result in alterations of SMA phenotypes, but it has nothing to do with the severity of SMA. Gene deletion analysis of SMN1 gene can be considered as the preferre
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2016年第10期1036-1041,共6页
Chinese Journal of Neuromedicine
关键词
肌萎缩
脊髓性
电生理检查
神经传导
基因
Muscular atrophy, spinal
Electromyography
Nerve conduction
Gene
