病人可能出现精神异常,呼吸过缓,痉挛性轻截瘫,甚至“锁定”状态。
Patients can present with an altered mental state, bradypnea, spastic paraparesis and even a "locked in" syndrome.
目的探讨遗传性痉挛性截瘫伴薄型胼胝体(HSPTCC)的临床特征。
Objective To explore the clinical characteristics of hereditary spastic paraplegia with thin corpus callosum (HSP TCC).
对1988年- 2001年收集的来自全国56个家族的77例遗传性痉挛性截瘫患者临床资料进行回顾性分析。
MethodsThe clinical materials of 77 HSP patients in 56 families from all over the country which were collected from 1988 to 2001 were analyzed retrospectively.
结论遗传性痉挛性截瘫散发病例的临床特点与有家族史者相似。
Conclusions The clinical characteristics in HSP cases are similar to familial history.
杜克研究中心的科学家们研究了两个存在遗传性痉挛性截瘫患者的家庭。
The Duke scientists began their search for genes associated with the disease by studying two families whose members had hereditary spastic paraplegia.
杜克的研究人员发现其中一种遗传性痉挛性截瘫与REEP1基因有关。
In their study, the Duke researchers found that one form of hereditary spastic paraplegia is linked to a gene called REEP1.
杜克的研究人员发现其中一种遗传性痉挛性截瘫与REEP1基因有关。
In their study, the Duke researchers found that one form of hereditary spastic paraplegia is linked to a gene called REEP1.
应用推荐