一个遗传性痉挛性截瘫家系的临床特点与spastin基因突变分析  

Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia

作　　者：刘凌[1] 刘运强[2] 徐严明[1] 薛蕊[1] 唐宇凤[1] 赵丽莉[1] 刘永宏[1] 周东[1] 

机构地区：[1]四川大学华西医院神经内科,成都610041 [2]四川大学华西医院医学遗传学教研室,成都610041

出　　处：《中华医学遗传学杂志》2007年第2期224-226,共3页Chinese Journal of Medical Genetics

摘　　要：目的探讨遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）一家系的临床特点及其与spastin基因突变关系。方法对整个家系进行详细的临床检查，先证者和家系内另两例患者进行了肌电图检查．先证者还进行r胸髓核磁共振检查。应用聚合酶链反应结合DNA序列分析方法，检测该家系中先证者和其父亲spastin基因的突变情况。结果家族中所有患者具有遗传性痉挛性截瘫的典型表现，先证者胸髓核磁共振成像显示胸髓明显萎缩，PCR—DNA序列分析患者spastin基因的17个外显子均未发现有异常的突变。结论该HSP家系的患者具有典型的临床表现，并非spastin基因外显子突变所致。Objective To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastie paraplegia （lISP）. Methods All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to eleetromyography （EMG） examinations. The proband was subjected to thoraeie MRI examination too. Mutation analysis of spastin gene was screened by polymerase chain reaction combined with DNA sequencing in the proband and his father. Results All patients in the kindred manifested as classical HSP. Thoracic MRI revealed atrophies of the spinal cord in the proband. No abnormal spastin gene mutation was detected in these two patients. Conclusion This kindred has typical clinical manifestations of HSP. The pathogenesis has no association with mutation of the exons of spastin gene.

关 键 词：遗传性痉挛性截瘫 spastin基因 突变分析 

分 类 号：R686[医药卫生—骨科学]