Dürr A, Brice A, Serdaru M, Rancurel G, Derouesné C, Lyon-Caen O, Agid Y, Fontaine B
INSERM U289, Hôpital de Salpêtrière, Paris, France.
Neurology. 1994 Jul;44(7):1274-7. doi: 10.1212/wnl.44.7.1274.
We studied 23 families with "pure" autosomal dominant spastic paraplegia. Examination of 142 at-risk individuals allowed identification of 70 patients, including 12 who were clinically affected but unaware of symptoms. The frequency of lower limb muscle weakness, decreased vibration sense, hyperreflexia in the upper limbs, and sphincter disturbances increased with the disease duration. The distribution of age at onset was unimodal, with a mean onset of 29 years (range, 1 to 68). The clinical manifestations of "early-onset" (< 29 years) and "late-onset" (> 29 years) patients were not significantly different. Age at onset varied as much within families as among families; anticipation and imprinting did not occur. No clinical criteria allowed differentiation among the families studied. Only linkage studies can provide accurate classification of this disease.
我们研究了23个患有“纯”常染色体显性遗传性痉挛性截瘫的家族。对142名有患病风险的个体进行检查后，确诊了70名患者，其中12名患者有临床症状但未意识到。下肢肌肉无力、振动觉减退、上肢反射亢进和括约肌功能障碍的发生率随病程延长而增加。发病年龄分布呈单峰型，平均发病年龄为29岁（范围为1至68岁）。“早发型”（<29岁）和“晚发型”（>29岁）患者的临床表现无显著差异。家族内发病年龄的差异与家族间一样大；未出现遗传早现和印记现象。所研究的家族之间无法通过临床标准进行区分。只有连锁研究才能对这种疾病进行准确分类。
