A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology

被引：56

作者：

Kobayashi, T

Ota, S

Tanaka, K

Ito, Y

Hasegawa, M

Umeda, Y

Motoi, Y

Takanashi, M

Yasuhara, M

Anno, M

Mizuno, Y

Mori, H

机构：

[1] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138421, Japan

[2] Tokyo Metropolitan Matsuzawa Hosp, Dept Neurol, Tokyo, Japan

[3] Tokyo Metropolitan Tama Geriat Hosp, Dept Psychiat, Tokyo, Japan

[4] Tokyo Metropolitan Tama Geriat Hosp, Dept Pathol, Tokyo, Japan

[5] Tokyo Inst Psychiat, Dept Mol Neurobiol, Tokyo, Japan

[6] Kyoto Prefectural Univ Med, Dept Legal Med, Kyoto, Japan

来源：

ANNALS OF NEUROLOGY | 2003年 / 53卷 / 01期

关键词：

D O I：

10.1002/ana.10447

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a novel mutation of tau (L266V missense mutation in exon 9) which may cause a type of familial frontotemporal dementia. The brain of a patient showed Pick body-like inclusions and unique tau-positive, argyrophilic astrocytes with stout filaments and naked, round, or irregular argyrophilic inclusions with deposits of both three-repeat and four-repeat tau. Recombinant tau with a L266V mutation showed a reduced ability to promote microtubule assembly, which may be the primary effect of the mutation.

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页码：133 / 137

页数：5

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