表现为痉挛性截瘫的脊髓小脑共济失调3型一家系临床特征及基因学分析

表现为痉挛性截瘫的脊髓小脑共济失调3型一家系临床特征
及基因学分析
刘蕾;段晓慧;陈雅文;陈梓尧;李中浩;刘尊敬
【期刊名称】《中国医刊》
【年(卷),期】2016(0)6
【摘要】ObjectiveTo provide evidence for clinical diagnosis by analyzing clinical manifestation and genetic characteristics of a spinocerebellar ataxia type 3 pedigree presenting as spastic paraplegia.MethodPedigree analysis was performed and the clinical characteristics were established, including the age of onset, main complains and symptoms. Genetic features was obtained through scanning the duplicate number of trinucleotide in pathogenic CAG of SCA3 by polymerase chain reaction.ResultThere are four patients in three generations of this pedigree. The proband was a 26 years old male and the age of onset was 24. He was the third generation and presented as spastic paraplegia without any evidence of cerebellar ataxia. The SCA3 duplicate number of CAG was 33/75. In the first generation, the age of onset was 55 and the main manifestation was ataxia. The number of CAG was 15/66. In the second generation, the age of onset was about 35, the first performance was ataxia, and spastic paraplegia was displayed gradually. The number of CAG was 36/71 and 36/67. ConclusionClinical manifestations can vary widely among SCA3 family members. For patients presenting with spastic paraplegia, SCA3 should be
considered and genetic testing is essential.%目的：通过对伴有痉挛性截瘫表
现的脊髓小脑共济失调3型家系进行临床特征和基因测序分析，为临床诊断提供
思路。

方法通过先症者建立家系图谱，收集患者的发病年龄、临床症状和体征，建立该家系患者的临床特征；通过聚合酶链反应技术检测家系患病成员SCA3的三
核苷酸重复序列的数目，确立其基因学特点。

结果该家系3代4例患者。

先症者
为男性患者，26岁，为该家系第三代，发病年龄24岁，以痉挛性截瘫为首发表现，无小脑共济失调表现，CAG重复数目为33/75次。

第Ⅰ代发病年龄55岁，
主要表现为小脑共济失调表现，SCA3基因CAG重复数目为15/66；第Ⅱ代发病
年龄35岁左右，以小脑共济失调为首发表现，但逐渐出现痉挛性截瘫表现，CAG 重复数目为36/71和36/67。

结论同一SCA3家系成员临床表现可以有很大差异；对于表现为痉挛性截瘫的患者，应考虑SCA3可能，需行相关基因检测明确。

【总页数】4页(P42-45)
【作者】刘蕾;段晓慧;陈雅文;陈梓尧;李中浩;刘尊敬
【作者单位】中日友好医院神经内科，北京 100029;中日友好医院神经内科，北
京 100029;中日友好医院神经内科，北京 100029;中日友好医院神经内科，北京100029;中日友好医院神经内科，北京 100029;中日友好医院神经内科，北京100029
【正文语种】中文
【中图分类】R744.7
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