Department of Neurology National Neuroscience Institute Tan Tock Seng Hospital Novena Singapore 308433; Memory and Aging Centre Department of Neurology University of California, San Francisco San Francisco California 94158.
Memory and Aging Centre Department of Neurology University of California, San Francisco San Francisco California 94158.
Ann Clin Transl Neurol. 2015 Nov 12;2(12):1124-8. doi: 10.1002/acn3.265. eCollection 2015 Dec.
Microtubule-associated protein tau mutations result in 10-20% of cases of genetic frontotemporal lobar degeneration. Tau mutation carriers typically develop behavioral variant frontotemporal dementia with or without parkinsonism. Unlike most frontotemporal dementia gene mutations, heterozygous R406W tau mutation carriers most often develop clinical Alzheimer's disease. We report a homozygous tau R406W mutation carrier with behavioral variant frontotemporal dementia who developed symptoms 20 years before mean family symptom onset. Voxel-based morphometry showed frontoinsular, frontal, and mesial temporal cortical atrophy. Homozygous tau R406W mutations appear to accelerate symptom onset and drive a behavioral variant frontotemporal dementia syndrome.
微管相关蛋白 tau 突变导致 10-20%的遗传性额颞叶变性病例。tau 突变携带者通常会发展为伴有或不伴有帕金森病的行为变异额颞叶痴呆。与大多数额颞叶痴呆基因突变不同，杂合 R406W tau 突变携带者最常发展为临床阿尔茨海默病。我们报告了一名携带行为变异额颞叶痴呆的纯合 tau R406W 突变携带者，他在家族平均症状出现前 20 年就出现了症状。基于体素的形态计量学显示额极、额和内侧颞叶皮质萎缩。纯合 tau R406W 突变似乎会加速症状的出现，并导致行为变异额颞叶痴呆综合征。
