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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。
Objective: To investigate the clinical features of sporadic hereditary spastic paraplegia (AD-HSP) in more than three generations inherited from two families and its relationship with spastin gene mutation. Methods: A detailed clinical examination of 2 AD-HSP pedigrees was conducted to summarize the clinical features of all patients. PCR and DNA sequence analysis were used to detect the mutation of spastin gene in 2 pedigrees. Results: All patients in 2 families had the typical appearance of HSP. No mutation was found in 17 exons of spastin gene in 2 probands by PCR-DNA sequence analysis. Conclusions: The two families of HSP patients have the typical clinical manifestation of AD-HSP, which is not caused by exon mutation of spastin gene.