维吾尔族一家系六例脊髓小脑性共济失调12型患者的临床特点分析  

Studies on Clinical Characteristics of SCA12 in 6 Uygur Nationality Patients

作　　者：张小宁[1] 李海涛[1] 雷晶[1] 马建华[1] 

机构地区：[1]新疆医科大学第一附属医院神经内科,新疆乌鲁木齐市830054

出　　处：《中国全科医学》2012年第3期306-308,共3页Chinese General Practice

基　　金：新疆维吾尔自治区自然科学基金(2011211A063)

摘　　要：目的探讨一维吾尔族家系6例脊髓小脑性共济失调12型(SCA12)患者的临床特点。方法应用世界神经病联合会国际协作共济失调评估量表(ICARS)对6例经基因学检查明确诊断的SCA12患者进行评估。结果 6例患者中大部分有步态不稳、双上肢震颤、腱反射活跃、肌张力增高、体位性眩晕、病理征阳性(5例/6例);眼球震颤及慢眼活动亦比较多见(4例/6例);可伴计算力、记忆力下降(3例/6例);视力下降、吞咽困难和肌肉萎缩不明显。ICARS分值越高,临床症状相应越重。结论维吾尔族SCA12主要以步态不稳、双上肢震颤为首发症状,ICARS评分可粗略评估患者共济失调的严重程度。Objective To analyze clinical characteristics of SCA12 in 6 Uygur nationality patients.Methods 6 SCA12 patients confirmed by genetics diagnosis were evaluated with International Collaboration Ataxia Assessment Scale of World Federation of Mental Derangement（ICARS）.Results Most of the six patients had manifestations like walking instability,double arm tremors,active tendinous reflex,muscle tension,postures vertigo and positive pathological symptoms（5/6）;Nystagmus and slow eye movement were frequently seen（4/6）;computing ability and memory decreased among the patients（3/6）;vision loss,swallowing difficulty and muscle atrophy were not obvious.The higher the ICARS score was,the more severe clinical symptoms the patients would get.Conclusion The main symptoms of SCA12 are walking instability and double arm tremors.The ICARS score can roughly evaluate the seriousness of ataxia.

关 键 词：脊髓小脑共济失调 系谱 临床特点 

分 类 号：R744.7[医药卫生—神经病学与精神病学]