A mutation in the microtubule-associated protein tau in pallido-nigroluysian degeneration

被引：73

作者：

Yasuda, M

Kawamata, T

Komure, O

Kuno, S

D'Souza, I

Poorkaj, P

Kawai, J

Tanimukai, S

Yamamoto, Y

Hasegawa, H

Sasahara, M

Hazama, F

Schellenberg, GD

Tanaka, C

机构：

[1] Hyogo Inst Aging Brain & Cognit Disorders, Himeji, Hyogo 6700981, Japan

[2] Natl Utano Hosp, Dept Neurol, Kyoto, Japan

[3] Vet Affairs Puget Sound Hlth Care Syst, Seattle Div, Ctr Res Educ Clin Ctr, Seattle, WA USA

[4] Univ Washington, Div Gerontol & Geriatr Med, Dept Med, Seattle, WA USA

[5] Univ Washington, Dept Pharmacol, Seattle, WA USA

[6] Univ Washington, Dept Neurol, Seattle, WA USA

[7] Shiga Univ Med Sci, Dept Pathol, Otsu, Shiga 52021, Japan

来源：

NEUROLOGY | 1999年 / 53卷 / 04期

关键词：

mutation; microtubule-associated protein tau; pallido-nigro-luysian degeneration;

D O I：

10.1212/WNL.53.4.864

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We detected a missense mutation in exon 10 of tau that causes a substitution at codon 279 (N279K)in a Japanese patient with a familial background of parkinsonism and dementia originally described as pallido-nigro-luysian degeneration. This mutation is the same as one seen in a Caucasian family with pallido-ponto-nigral degeneration. The similarities between these two families suggest a common genetic mechanism that may account for the peculiar distribution of neuroglial degeneration with tauopathy.

引用

页码：864 / 868

页数：5

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