Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S, Ikuta F
Niigata University, Department of Pathology, Japan.
Acta Neuropathol. 1994;88(2):185-8. doi: 10.1007/BF00294513.
Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
已发现铜/锌结合超氧化物歧化酶（SOD1）基因外显子1、2、4和5内的几个错义突变与21号染色体q连锁的家族性肌萎缩侧索硬化症（FALS）的发病有关。我们在此描述一名FALS尸检患者，最近我们在该患者的SOD1基因外显子1中发现了一个新的错义突变。神经病理学发现与先前描述的伴有后柱受累的FALS患者的发现一致。这表明SOD1基因的突变可能是这种形式的FALS的病因。
