遗传性痉挛性截瘫一家系临床及spastin基因突变的特点

Characteristics of clinical and spastin gene mutation in a family with hereditary spastic paraplegia

目的探讨遗传性痉挛性截瘫(SPG)一家系临床及基因突变的特点。方法回顾性分析一个SPG家系的临床资料。结果该家系内5代共有5例SPG患者,各代均有发病。3例存活患者均为女性,发病年龄16～21岁,平均18.3岁;病程11～58年,平均33.3年;3例患者临床表现为缓慢进展的双下肢无力,下肢肌张力明显增高。基因检测显示3例患者spastin基因c.1098+1～2gt→ctcaga突变,家系中正常成员未见该变异。结论该SPG家系的遗传方式为常染色体显性,临床表现为单纯性SPG,为spastin基因c.1098+1～2gt→ctcaga突变所致。

Objective To explore the characteristics of clinical and spastin gene mutation in a family with hereditary spastic paraplegia（SPG）.Methods The clinical data of the SPG family were analyzed retrospectively.Results There were 5 SPG patients in the family from 5 generations,each generation had 1 cases respectively.Three survivors patients were all females.The onset age was from 16 to 21 years old,18.3 years averagely,and the duration was from 11 to 58 years,33.3 years averagely.The clinical manifestations of the 3 cases were slowly progressive weakness of the lower limbs and the muscle tone increased obviously.The gene test showed that spastin gene mutation c.1098＋1-2gt→ ctcaga was identified in the 3 cases,but did not fount out in healthy members of the family.Conclusion In this SPG family,the genetic way is autosomal dominant,the clinical manifestation is pure SPG,spastin gene c.1098＋1-2gt→ctcaga mutation may be the SPG cause.