4例脊髓小脑性共济失调3型患者的临床特征及遗传学分析  

Spinocerebellar ataxia type 3:Clinical pictures and mutation in 4 cases

作　　者：尚贤金[1] 苏秋妮[2] 周志明[1] 

机构地区：[1]皖南医学院第一附属医院弋矶山医院神经内科,安徽芜湖241001 [2]厦门大学附属第一医院检验科,福建厦门361003

出　　处：《皖南医学院学报》2016年第2期133-135,共3页Journal of Wannan Medical College

基　　金：国家自然科学基金面上项目(81171110);皖南医学院校中青年科研基金(WK2012F04)

摘　　要：目的:探讨安徽南部地区4例脊髓小脑性共济失调3型(SCA3)患者的临床特点及遗传学特征。方法:详细收集4例住院治疗SCA3家系患者临床病史资料,对其临床特点进行归纳分析,利用基因测序方法检测患者及家系成员的ATXN3基因(CAG)n突变特征。结果:4例SCA3患者,包括3例家族遗传发病和1例散发起病,均以进行性共济失调为首发症状,包括共济失调步态、辨距不良、吞咽困难等显著症状,伴随病理征阳性、反射亢进、肌张力升高等锥体及锥体外系体征,部分患者出现明显的眼部症状,甚至肌肉痛性痉挛,皮肤感觉功能障碍和认知功能障碍等少见临床表现,还有肌肉萎缩等晚期疾病表现。基因测序证实4例患者(CAG)n扩增数均大于60次,诊断脊髓小脑性共济失调3型明确。结论:脊髓小脑性共济失调3型患者临床表现复杂,基因检测仍是疾病诊断的金标准。Objective：To investigate the clinical and genetic features of spinocerebellar ataxia type 3（SCA3）in population living in southern area of Anhui province.Methods：The clinical data,together with the family history,were collected in 4 hospitalized patients with SCA3,and clinical characteristics were analyzed.Direct sequencing of ATXN3 was performed in the probands and the family members of the four patients to reveal the pattern of CAG trinucleotide repeat expansion [（CAG）n].Results：In the four SCA3 cases,3 were inherited from the kindreds and one sporadic.Initial onset was generally characterized by progressive ataxia,including ataxic gait,dysmetria and dysphagia or cerebellar and brainstem dysfunction,with pyramidal and extrapyramidal signs such as Babinski signs,hyperreflexia and dystonia.Some patients developed marked oculomotor alteration,and even minor but specific features typical of cramp,skin sensory neuropathy and mild cognitive impairment.In advanced stages of disease,patients developed amyotrophy.Molecular diagnosis revealed the pattern of CAG repeat units of four probands being more than 60.Conclusion：SCA3 can be complex in clinical manifestation,and DNA-based testing can confirm the diagnosis.

关 键 词：脊髓小脑性共济失调3型 马查多-约瑟夫病 SCA3/MJD CAG动态突变 

分 类 号：R744[医药卫生—神经病学与精神病学]