论文部分内容阅读
目的:提高对遗传性痉挛性截瘫(HSP)的认识。方法:对一家系中的10例HSP患者的临床特点、影像学表现、电生理检查以及家系谱分析进行总结,并结合复习国内相关文献予以分析。结果:该家系遗传特点属常染色体显性遗传,虽临床表现严重程度不同,但存在遗传早现;其临床表现符合单纯型HSP。结论:该家系为单纯型HSP。虽药物治疗可缓解部分临床症状,但目前尚无特殊对因治疗方法。HSP致病基因的精确定位及基因治疗将给患者带来新机遇。
Objective: To improve the understanding of hereditary spastic paraplegia (HSP). Methods: The clinical features, imaging findings, electrophysiological examination and pedigree analysis of 10 cases of HSP in a pedigree were summarized, and the related domestic literatures were reviewed for analysis. Results: The genetic characteristics of this pedigree were autosomal dominant inheritance. Although the clinical manifestations were different in severity, the genetic predisposition existed. The clinical manifestations were consistent with simple HSP. Conclusion: This pedigree is a simple form of HSP. Although drug treatment can alleviate some of the clinical symptoms, but there is no special treatment due to the current method. The exact location of HSP pathogenic genes and gene therapy will bring new opportunities for patients.