Yeh Y C, Mak S C, Chi C S
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1998 Mar-Apr;39(2):112-5.
Hereditary spastic paraplegia (HSP) is a degenerative disorder of the central nervous system, characterized by progressive weakness and spasticity of the lower extremities. The first symptom is usually leg stiffness, unstable gait with difficulty in walking. According to the clinical features, hereditary spastic paraplegia can be divided into pure type and complicated type. The mode of hereditary spastic paraplegia can be autosomal dominant, autosomal recessive or X-linked. There have been many loci on chromosomes identified in recent years. We present two Chinese siblings with unstable gait, a 5-year-3-month-old brother and his 3-year-1-month-old sister, who belong to the pure type hereditary spastic paraplegia. Both of them had motor deficit on follow up.
遗传性痉挛性截瘫（HSP）是一种中枢神经系统退行性疾病，其特征为下肢进行性无力和痉挛。首发症状通常是腿部僵硬、步态不稳且行走困难。根据临床特征，遗传性痉挛性截瘫可分为单纯型和复杂型。遗传性痉挛性截瘫的遗传方式可为常染色体显性遗传、常染色体隐性遗传或X连锁遗传。近年来，在染色体上已确定了许多基因座。我们报告了两名步态不稳的中国兄妹，哥哥5岁3个月，妹妹3岁1个月，他们属于单纯型遗传性痉挛性截瘫。随访时两人均有运动功能缺损。
