Shimizu T, Tanaka K, Tanahashi N, Fukuuchi Y, Kitamoto T
Department of Neurology, School of Medicine, Keio University.
Rinsho Shinkeigaku. 1994 Jun;34(6):590-2.
We report a 50-year-old female with sporadic Creutzfeldt-Jakob disease who revealed a point mutation at codon 232 of prion protein (Met to Arg). The initial symptom was visual disturbance. The patient then developed progressive dementia, cerebellar ataxia and myoclous. About eight months after the onset, the patient went into the state of akinetic mutism. The electroencephalogram showed periodic synchronous discharges. From the prion protein's DNA sequencing of the patient's family members, the 84-year-old father without any neurological symptoms was also detected to have a point mutation at codon 232. These findings which, have not been reported before, are interesting when considering the relation between the pathogenesis of Creutzfeldt-Jakob disease and mutations of prion protein gene.
我们报告了一名患有散发性克雅氏病的50岁女性，其朊蛋白第232密码子发生了点突变（甲硫氨酸变为精氨酸）。初始症状为视觉障碍。该患者随后出现进行性痴呆、小脑共济失调和肌阵挛。发病约八个月后，患者进入无动性缄默状态。脑电图显示周期性同步放电。对患者家庭成员的朊蛋白DNA测序发现，84岁无症状的父亲在第232密码子也存在点突变。这些此前未被报道的发现，在考虑克雅氏病发病机制与朊蛋白基因突变之间的关系时很有意思。
