Koide T, Ohtake H, Nakajima T, Furukawa H, Sakai K, Kamei H, Makifuchi T, Fukuhara N
Department of Neurology, National Saigata Hospital, Niigata, Japan.
Neurology. 2002 Nov 26;59(10):1619-21. doi: 10.1212/01.wnl.0000033796.33205.b4.
The authors describe a patient who had a point mutation at codon 232 of the prion protein gene, resulting in the substitution of methionine for arginine (M232R). The patient developed dementia and died 6 years after its onset. Autopsy revealed dementia with Lewy bodies, not Creutzfeldt-Jakob disease. Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease.
作者描述了一名患者，其朊蛋白基因密码子232处存在点突变，导致甲硫氨酸替代精氨酸（M232R）。该患者出现痴呆症状，发病6年后死亡。尸检显示为路易体痴呆，而非克雅氏病。尽管据报道M232R突变可导致克雅氏病，但我们患者的检查结果表明，并非所有携带M232R突变且出现进行性痴呆的患者都患有克雅氏病。
