遗传性痉挛性截瘫的临床和遗传特点

Clinical and genetic characteristics of hereditary spastic paraplegia

目的 探讨遗传性痉挛性截瘫的临床和遗传特点。方法 对 39个家系 113例患者的临床资料进行回顾性分析。结果 男∶女为 1∶1.17,发病年龄 2～ 5 8岁 ,平均 2 1.4岁 ,30岁以前发病占 81.7%。有家族史者占 89.4 % ,多呈常染色体显性遗传。近亲结婚家系占 2 8.2 %。单纯型 2 4例 ,复杂型 89例。双下肢肌力下降占 6 5 .5 % ,肌张力增高和腱反射亢进均为 96 .5 % ,病理征阳性 6 8.1%。合并症中共济失调占 4 6 .9% ,肌萎缩占 32 .7% ,痴呆占 18.6 %。结论 本组遗传性痉挛性截瘫患者多于青少年或青年发病 ,女性多于男性 ,复杂型较单纯型多见 ,遗传方式以常染色体显性遗传多见 。

Objective To investigate the clinical and genetic characteristics of hereditary spastic paraplegia(HSP).Methods The clinical material of 113 patients in 39 families with HSP was analyzed retrospectively.Results The ratio of male to female was 1:1.17.The age at HSP onset was from 2 to 58 years old, the mean age was 21.4 years old, and 81.7% of the patients had HSP before 30. 89.4% of the patients had positive family history and they showed mostly autosomal dominant inheritance. The rate of consanguinity was 28.2%. 24 cases had pure while 89 cases had complicated spastic paraplegia. In the HSP group, we could found the weakness of legs in 65.5% patients, spasticity and hyperreflexia of lower limbs in 96.5%, extensor plantar responses in 68.1%, ataxia in 46.9%, muscular atrophy in 32.7% and dementia in 18.6%.Conclusion In the HSP group, the year of onset was mostly before 30. The female HSP cases were more than the male's, and the complicated cases were more often than the pure. Autosomal dominant was the mostly frequent inheritance, and there were more chances of HSP in the consanguineous families.