Saito T, Isozumi K, Komatsumoto S, Nara M, Suzuki K, Dohura K
Department of Neurology, Ashikaga Red Cross Hospital, Tochigi, Japan.
Rinsho Shinkeigaku. 2000 Jan;40(1):51-4.
A 50-year-old man was admitted to our hospital because of disorientation and nocturnal restlessness. The patient presented chronically progressive dementia. No myoclonus or periodic synchronous discharge (PSD) was found over time, with abnormal evidence in MRI-FLAIR (fluid-attenuated inversion recovery) images alone. Brain biopsy and prion protein gene analysis led to the final diagnosis of Creutzfeldt-Jakob disease (CJD) induced by the point mutation at codon 232 (Met to Arg). To date the cases of M232R mutation-induced CJD have been reported to present clinical symptoms and pathological evidences similar to sporadic CJD cases, and differential diagnosis between the types has been believed to be difficult. Our case suggests that some types of CJD induced by point mutation at codon 232 cannot be easily inferred from clinical findings.
一名50岁男性因定向障碍和夜间烦躁不安入住我院。该患者表现为慢性进行性痴呆。随着时间推移，未发现肌阵挛或周期性同步放电（PSD），仅在MRI-FLAIR（液体衰减反转恢复序列）图像中有异常表现。脑活检和朊蛋白基因分析最终诊断为232密码子（甲硫氨酸突变为精氨酸）点突变所致的克雅氏病（CJD）。迄今为止，据报道M232R突变所致CJD病例的临床症状和病理证据与散发性CJD病例相似，且认为这两种类型之间的鉴别诊断困难。我们的病例表明，232密码子点突变所致的某些类型CJD难以从临床发现中轻易推断出来。
