一个脊髓小脑共济失调3型家系临床特征分析  

The Analysis of Clinical Manifestations in a Large SCA3 Pedigree

作　　者：李洁亮[1] 孙筱放[1] 周伯荣[2] 何文智[1] 何文茵[1] 范勇[1] 魏君[1] 朱德途 

机构地区：[1]广东省产科重大疾病重点实验室,广州医科大学附属第三医院妇产科研究所实验部,广州510150 [2]广州医科大学附属第三医院神经内科

出　　处：《中国神经精神疾病杂志》2014年第4期202-208,共7页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金项目(编号:31171229)

摘　　要：目的分析一个脊髓小脑共济失调3型家系患者临床特征,探讨脊髓小脑共济失调3型(spinocerebellar ataxia 3,SCA3)疾病家族临床异质性,为临床医生早期正确诊断疾病提供依据。方法通过聚合酶链反应及毛细管电泳片段分析确诊一个SCA3家系,详细记录患者临床特征,并对其进行汇总分析,部分患者行头颅MRI检测及眼底检查。结果此SCA3家系共18例临床患者,12例症状前患者。除经典的小脑系统症状外,其中3例还表现为智力障碍,1例伴随颈椎病,1例早期出现肌张力障碍,1例视觉系统障碍,7例植物神经机能障碍表现。部分患者MRI检测结果显示不同程度桥脑小脑萎缩,眼底检测未见明显改变。结论在同一家系中,SCA3也具有明显的临床异质性。建议当一个家系中同时存在小脑系统、视觉系统、植物神经系统障碍,颈椎病,智力障碍时,需考虑SCA3型可能。Objective To analysis the clinical manifestations of a large Spinocerebellar Ataxia 3 pedigree to pro-vide the information for the early diagnosis of Ataxia 3. Methods SCA3/ATXN3 gene was determined by using Poly-merase Chain Reaction and fragment analysis in the large pedigree members and patients＇ clinical data was collected.Five patients underwent MRI imaging and fundus examination. Results There were eighteen clinical patients and twelveATXN3 carriers in this Pedigree . In addition to ataxia, three patients presented with intellectual disability, one with cer-vical spondylosis, one with dysmyotonia, one with disorder in visual system, and seven with abnormality in autonomic ner-vous system. The MRI revealed that pons and cerebellar atrophy in some patients inordinately. Undus examination didnot reveal any obvious abnormality. Conclusions The symptoms of SCA3 are heterogeneous in the same pedigree. Whenpatients present with symptoms of eerebellar system, visual system and autonomic nervous system, or cervical spondylosisand intellectual disability, SCA3 should be considered.

关 键 词：脊髓小脑共济失调3型 临床特征 核磁共振成像 临床异质性 

分 类 号：R744.7[医药卫生—神经病学与精神病学]