Sommerfelt K, Kyllerman M, Sanner G
Department of Pediatrics, University of Bergen, Norway.
Acta Neurol Scand. 1991 Aug;84(2):157-60. doi: 10.1111/j.1600-0404.1991.tb04925.x.
A previously undescribed form of complicated hereditary spastic paraplegia with epileptic myoclonus in four affected offspring of consanguineous parents is reported. The disorder was inherited as an autosomal recessive trait. Age at onset varied from the prenatal period to 10 years. The main findings when examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss and a progressive course. The difference in phenotypic expression was striking. One woman had progressive epileptic myoclonus, ataxia and only slight distal wasting and could have been misdiagnosed as a case of Unverricht-Lundborg's disease. Thorough biochemical investigations revealed no cause of the disorder.
报道了一种此前未被描述的复杂型遗传性痉挛性截瘫，在近亲结婚的父母的四个患病后代中伴有癫痫性肌阵挛。该疾病以常染色体隐性性状遗传。发病年龄从产前到10岁不等。在26至42岁接受检查时的主要表现为痉挛性截瘫、癫痫性肌阵挛、远端肌肉萎缩、智力发育迟缓或迟钝、共济失调、听力丧失以及病情呈进行性发展。表型表达的差异很显著。一名女性患有进行性癫痫性肌阵挛、共济失调，仅有轻微的远端肌肉萎缩，可能被误诊为昂韦里希特 - 伦德伯格病。全面的生化检查未发现该疾病的病因。
