Ono S, Inoue K, Kurisaki H, Okiyama R, Shimizu J, Nagao K
Department of Neurology, Teikyo University School of Medicine, Chiba, Japan.
J Neurol Sci. 1995 Dec;134(1-2):160-6. doi: 10.1016/0022-510x(95)00234-6.
We studied a family in which three siblings had an identical clinical feature indistinguishable from familial amyotrophic lateral sclerosis (ALS), consisting of progressive generalized neurogenic muscular atrophy with hyporeflexia and normal sensations beginning in the fourth decade. The duration of illness was about 4 years in all affected members. Autopsy of one patient revealed multiple foci of spongy degeneration in the white matter of the spinal cord, brain stem, cerebellum, and the thalamus, characterized by vacuoles of various size, foamy macrophages and degenerating swollen axons. These changes were most marked in the spinal cord, where there was neither pyramidal tract involvement nor neuronal loss in the anterior horn. The pathological findings were different from those of ALS. A similar disease affected the siblings' mother, suggesting an autosomal dominant inheritance. The disease in the kindred, therefore, appears to be a unique hereditary disorder.
我们研究了一个家庭，其中三个兄弟姐妹具有与家族性肌萎缩侧索硬化症（ALS）无法区分的相同临床特征，包括始于第四个十年的进行性全身性神经源性肌肉萎缩、反射减退和感觉正常。所有受影响成员的病程约为4年。对一名患者进行尸检发现，脊髓、脑干、小脑和丘脑的白质中有多个海绵状变性灶，其特征为大小各异的空泡、泡沫状巨噬细胞和变性肿胀的轴突。这些变化在脊髓中最为明显，脊髓中既没有锥体束受累，也没有前角神经元丢失。病理结果与ALS不同。一种类似的疾病影响了这些兄弟姐妹的母亲，提示为常染色体显性遗传。因此，该家族中的疾病似乎是一种独特的遗传性疾病。
