僵人综合征及变异型患者的临床与神经电生理特点

摘要

Objective To demonstrate the clinical and electrophysiological characteristics of stiffperson syndrome (SPS) and variants,investigate the frequency of coexisting autoimmune disease and cancer,and determine the correlation between anti-glutamic acid decarboxylase (GAD) antibody titers and severity and outcome of the disease.Methods Clinical and electrophysiological data of 8 SPS patients of Peking Union Medical College Hospital between 2001 and 2012 were collected.We used Rankin Scale to score and count the probability of coexisting autoimmune disease and cancer,and used SPSS 17.0 to analyze the correlation between anti-GAD antibody titers,severity and outcome of the disease.Results Seven out of the 8 SPS patients were rigidity and spasms of trunk and lower extremities.Four out of the 6 patients underwent electromyography examination showed evidence of continuous motor unit activity,especially in paraspinal muscles.None of the 4 patients underwent electroencephalography examination showed epileptiform discharges.Five of the 7 patients underwent anti-GAD antibody examination were seropositive.Among these GAD antibody seropositive patients,3 patients had diabetes mellitus,4 patients had thyroid disease,and 1 had coexisting cancer.Among the 2 anti-GAD antibody seronegative patients,none of them had diabetes mellitus,1 had thyroid disease,and 1 had coexisting cancer.Among the patients whose antiGAD antibody titers were more than 2.000 × 106 U/L,the Rankin scores before treatment were 5,4,4 respectively,and the Rankin scores improvement after treatment were 1,2,2 respectively.Among the patients whose anti-GAD antibody titers were less than 2.000 × 106 U/L,the Rankin scores before treatment were 4,4 respectively,and the Rankin scores improvement after treatment were 2,2 respectively.Between the patients with anti-GAD antibody titers less than and more than 2.000 ×106 U/L,the Rankin scores before treatment had no significant difference (U =2.000,P =0.414),and the Rankin scores improvement after treatment had no significant difference (U =2.000,P =0.414).Conclusions The main clinical manifestations of SPS patients are rigidity and painful spasms of axial muscles,and electromyography examination shows evidence of continuous motor unit activity.Anti-GAD antibody titers may have no practical value in predicting the severity and outcome of SPS,but classification by anti-GAD antibody serostatus may be useful for predicting the risk of coexisting autoimmune disease and cancer.%目的 总结僵人综合征(SPS)及变异型患者的临床特点及电生理特点,并对其伴发自身免疫病或肿瘤的概率以及抗谷氨酸脱羧酶(GAD)抗体滴度对临床症状严重程度及预后的预测价值进行分析.方法 收集北京协和医院2001-2012年诊断为SPS的8例患者的临床与辅助检查资料,并进行Rankin评分和统计伴发自身免疫病或肿瘤的概率；应用SPSS 17.0软件对抗GAD抗体滴度与临床症状严重程度、治疗效果的关系进行统计学分析.结果 8例SPS患者中7例主要表现为躯干和下肢强直痉挛.6例行针极肌电图检查,4例可见安静状态下持续的运动单位电位活动,其中以躯干肌最明显.4例行脑电图检查,均无异常癫痫样放电.7例行抗GAD抗体检查,5例呈阳性,其中3例伴发糖尿病,4例伴发甲状腺疾病,1例伴发肿瘤；2例呈阴性,无伴发糖尿病,1例伴发甲状腺疾病,1例伴发肿瘤.血抗GAD抗体滴度＞2.000×106 U/L者治疗前Rankin评分分别为5、4、4分,治疗后分别改善1、2、2分,血抗GAD抗体滴度＜2.000×106 U/L者治疗前评分为4、4分,治疗后分别改善2、2分,两者治疗前Rankin评分差异无统计学意义(U =2.000,P=0.414),治疗后评分改善程度差异无统计学意义(U=2.000,P=0.414).结论 SPS患者临床上主要表现为以躯干为主的肌肉僵硬、痉挛,肌电图上表现为安静状态下主动肌和拮抗肌持续的运动单位电位活动.抗GAD抗体滴度对临床症状严重程度及预后可能不具有预测价值,但根据抗GAD抗体是否阳性对SPS患者进行分类,有助于预测患者合并自身免疫病及肿瘤的风险.