新疆地区脊髓小脑性共济失调3型患者临床特征研究  

Clinical Features of Spinocerebellar Ataxia Type 3 Patients in Xinjiang Area

作　　者：张艳[1] 雷晶[1] 马建华[1] ZHANG Yan;LEI Jing;MA Jian-hua(Department of Neurology,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院神经内科

出　　处：《中国全科医学》2018年第5期540-545,共6页Chinese General Practice

基　　金：新疆维吾尔自治区自然科学基金资助项目(2011211A063)

摘　　要：目的探讨新疆地区脊髓小脑性共济失调3型(SCA3)患者的临床特征。方法选取2008年5月—2017年4月在新疆医科大学第一附属医院神经内科门诊及住院临床诊断为SCA的23个家系79例患者(已故29例,现存50例)和74例散发SCA患者,应用聚合酶链反应(PCR)、琼脂糖凝胶电泳技术,检测SCA患者的SCA3基因内CAG三核苷酸扩增情况,并对扩增结果和患者临床特征进行分析。结果 23个SCA家系检测确定18个家系为SCA3型,现存患者43例,症状前患者8例;74例散发SCA患者检测确定18例为SCA3型。SCA3患者临床主要表现为共济失调、构音障碍、凝视诱发的眼震、认知障碍、乏力、腱反射活跃/亢进、病理征阳性、睡眠障碍、脑神经受损等,同时可合并其他多种少见临床症状。结论 SCA3是新疆地区SCA中最常见的亚型,根据患者临床特征对诊断可提供一定帮助。Objective To probe the clinical features of spinocerebellar ataxia type 3(SCA3)patients in Xinjiang area,China.Methods We enrolled 153 SCA outpatients and inpatients from Department of Neurology,the First Affiliated Hospital of Xinjiang Medical University between May,2008 and April,2017,including 79 hereditary SCA patients(29 died and the other 50 alive)from 23 families and 74 sporadic patients.CAG trinucleotide repeat in the coding region of SCA3 gene was amplified by polymerase chain reaction(PCR),then the PCR products were analyzed by agarose gel electrophoresis.The detection results and clinical features of these patients were analyzed.Results Eighteen of the selected 23 SCA families were identified as SCA3,from which 43 cases were diagnosed with SCA3,and 8 cases with presymptomatic SCA3.Eighteen of the 74 sporadic patients were identified with SCA3.The main clinical manifestations of these cases of SCA3 include ataxia,dysarthria,gaze-evoked nystagmus,cognitive impairment,fatigue,active/hyperactive tendon reflexes,positive pathological sign,sleep disorders,cranial nerves damage,and other rare clinical symptoms.Conclusion SCA3 is the most common subtype of SCA in Xinjiang area.The study provides some assistance for the diagnosis of this disease.

关 键 词：MACHADO-JOSEPH病 三核苷酸重复 系谱 散发 临床特征 

分 类 号：R742.82[医药卫生—神经病学与精神病学]