遗传性痉挛性截瘫伴胼胝体发育不良maspardin基因突变分析  

Clinical Features and Maspardin Gene Mutation Analysis of Hereditary Spastic Paraplegia with Thin Corpus Callosum

作　　者：沈璐[1] 赵国华[1] 唐北沙[1] 刘小民[1] 严新翔[1] 胡正茂[2] 陈昕[1] 张付峰[1] 夏昆[2] 

机构地区：[1]中南大学湘雅医院神经内科,湖南长沙410008 [2]中南大学中国医学遗传学国家重点实验室,湖南长沙410078

出　　处：《医学临床研究》2005年第6期721-723,共3页Journal of Clinical Research

基　　金：国家自然科学基金(30300199);国家863计划项目(2004AA227040)

摘　　要：【目的】探讨遗传性痉挛性截瘫伴胼胝体发育不良(HSPTCC)患者的临床特征并检测是否存在maspardin基因突变。【方法】对5个HSPTCC家系患者的临床资料进行回顾性分析,采用DNA序列分析方法,对这5个家系先证者的maspardin基因编码区进行突变分析。【结果】5个HSPTCC家系的患者表现为10～20岁发病,痉挛性截瘫伴痴呆,头颅MRI示胼胝体发育不良,maspardin基因突变分析未发现致病突变,发现3个多态(IVS11insC,IVS2+35A→G,IVS3+84G→C)。【结论】HSPTCC家系的临床特征与Mast综合征的临床特征极其相似,本组HSPTCC患者不是maspardin基因突变所致。[Objective]To investigate the clinical features and maspardin gene mutation of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).[Methods]The clinical information of 5 HSP-TCC families was analyzed retrospectively. Mutation analysis of the coding domain sequence of maspardin gene was screened by DNA direct sequencing in the 5 families.[Results]The age of onset was between 10 and 20 years and the clinical features of the 5 HSP-TCC families were spastic paraplegia and dementia associated with thin corpus callosum. No diseasecausative mutation but three polymorphisms (IVS1-1insC, IVS2+35A→G, IVS3+84G→C) were identified.[Conclusion]The clinical features of the 5 HSP-TCC families are extremely similar to those of the Mast syndrome. The 5 HSP-TCC families are not caused by maspardin gene mutation.

关 键 词：痉挛性截瘫 遗传性 并发症 胼胝体 突变 

分 类 号：R596[医药卫生—内科学]