Saito Y, Geyer A, Sasaki R, Kuzuhara S, Nanba E, Miyasaka T, Suzuki K, Murayama S
Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, University of Tokyo, Japan.
Neurology. 2002 Mar 12;58(5):811-3. doi: 10.1212/wnl.58.5.811.
An early-onset and rapidly progressive familial tauopathy with R406W mutation is described. The patient was a 47-year-old man who first presented with psychiatric symptoms followed by overt dementia at age 52 and died 1 year later. Postmortem study revealed tangle-associated neuronal degeneration, accentuated in the medial temporal lobe. R406W mutation was determined by sequence analysis and immunocytochemically with anti-mutant tau antibody.
本文描述了一种伴有R406W突变的早发性、快速进展性家族性tau蛋白病。患者为一名47岁男性，最初表现为精神症状，52岁时出现明显痴呆，1年后死亡。尸检研究显示与缠结相关的神经元变性，在内侧颞叶更为明显。通过序列分析和使用抗突变tau抗体的免疫细胞化学方法确定了R406W突变。
