Yasuda M, Yokoyama K, Nakayasu T, Nishimura Y, Matsui M, Yokoyama T, Miyoshi K, Tanaka C
Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
Neurology. 2000 Oct 24;55(8):1224-7. doi: 10.1212/wnl.55.8.1224.
The authors report a patient carrying a missense mutation in exon 10 of tau that causes a substitution at codon 301 (P301S). Although the patient shares the rapidly progressive frontotemporal dementia of the other reported pedigrees with P301S, the clinical phenotype is unique in that parkinsonism was a major symptom in the early stage and because behavioral symptoms with dementia became prominent 2 years after the onset of the disease. This study substantiates the notion that tau mutations at codon 301 can show various phenotypes.
作者报告了一名患者，其tau蛋白第10外显子存在错义突变，导致密码子301处发生替换（P301S）。尽管该患者与其他报道的携带P301S突变的家系一样患有快速进展性额颞叶痴呆，但临床表型独特，表现为帕金森症是早期的主要症状，且痴呆相关的行为症状在疾病发作2年后变得突出。这项研究证实了密码子301处的tau突变可表现出多种表型这一观点。
