遗传性痉挛性截瘫2家系的临床特点与spastin基因突变分析  

Clinical Characteristics and Spastin Gene Mutation Analysis in Two Autosomal Dominant Kindreds with Hereditary Spastic Paraplegia

作　　者：张文颖 欧阳志远[2] 卢兴娇[2] 岑志栋[2] 罗巍[2] 

机构地区：[1]杭州市下沙医院神经内科,310000 [2]浙江大学医学院附属第二医院神经内科,310009

出　　处：《中国临床神经科学》2012年第5期521-526,共6页Chinese Journal of Clinical Neurosciences

基　　金：国家自然科学基金(编号:30973221);中央高校基本科研业务费专项资金(编号:2010QNA7035);浙江省重点科技创新团队基金;浙江省医药卫生科学研究基金(编号:2007A101)

摘　　要：目的:探讨2个家系遗传3代以上常染色体显性遗传性痉挛性截瘫(AD-HSP)的临床特点及其与spastin基因突变的关系。方法:对2个AD-HSP家系进行详细的临床检查,总结所有患者临床特点,并应用PCR技术结合DNA序列分析方法,检测2家系先证者spastin基因的突变情况。结果:2家系中所有患者均具有HSP的典型表现,PCR-DNA序列分析2例先证者spastin基因的17个外显子均未发现有异常突变。结论:2家系HSP患者具有典型的AD-HSP临床表现,并非spastin基因外显子突变所致。ABSTRACT Aim： To investigate the clinical characteristics and analyze spastin gene mutation on two kindreds with hereditary spastic paraplegia（SPG）. Methods： All family members were studied through clinical examinations. Mutation analysis ofspastin gene was screened by polymerase chain reaction combined with DNA sequencing in two probands. Results： All patients in kindreds manifested as classical SPG. No abnormal spastin gene mutation was detected in two probands. Conclusion： These two kindreds have typical clinical manifestations of SPG. The pathogenesis has no association with the mutation of the exons of spastin gene.

关 键 词：遗传性痉挛性截瘫 突变检测 spastin基因 常染色体显性遗传 

分 类 号：R744[医药卫生—神经病学与精神病学]