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

Minoru Yasuda; T. Kawamata; O. Komure; S. Kuno; I. D'Souza; P. Poorkaj; J. Kawai; S. Tanimukai; Y. Yamamoto; H. Hasegawa; M. Sasahara; F. Hazama; G. D. Schellenberg; C. Tanaka

doi:10.1212/wnl.53.4.864

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

Minoru Yasuda^*, T. Kawamata, O. Komure, S. Kuno, I. D'Souza, P. Poorkaj, J. Kawai, S. Tanimukai, Y. Yamamoto, H. Hasegawa, M. Sasahara, F. Hazama, G. D. Schellenberg, C. Tanaka

^*Corresponding author for this work

Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

83 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	864-868
Number of pages	5
Journal	Neurology
Volume	53
Issue number	4
DOIs	https://doi.org/10.1212/wnl.53.4.864
State	Published - 1999/09/11

Keywords

Microtubule-associated protein tau
Mutation
Pallido-nigro-luysian degeneration

ASJC Scopus subject areas

Clinical Neurology

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10.1212/wnl.53.4.864

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title = "A mutation in the microtubule-associated protein tau in pallido- nigroluysian degeneration",

abstract = "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.",

keywords = "Microtubule-associated protein tau, Mutation, Pallido-nigro-luysian degeneration",

author = "Minoru Yasuda and T. Kawamata and O. Komure and S. Kuno and I. D'Souza and P. Poorkaj and J. Kawai and S. Tanimukai and Y. Yamamoto and H. Hasegawa and M. Sasahara and F. Hazama and Schellenberg, {G. D.} and C. Tanaka",

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TY - JOUR

T1 - A mutation in the microtubule-associated protein tau in pallido- nigroluysian degeneration

AU - Yasuda, Minoru

AU - Kawamata, T.

AU - Komure, O.

AU - Kuno, S.

AU - D'Souza, I.

AU - Poorkaj, P.

AU - Kawai, J.

AU - Tanimukai, S.

AU - Yamamoto, Y.

AU - Hasegawa, H.

AU - Sasahara, M.

AU - Hazama, F.

AU - Schellenberg, G. D.

AU - Tanaka, C.

PY - 1999/9/11

Y1 - 1999/9/11

N2 - 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.

AB - 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.

KW - Microtubule-associated protein tau

KW - Mutation

KW - Pallido-nigro-luysian degeneration

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U2 - 10.1212/wnl.53.4.864

DO - 10.1212/wnl.53.4.864

M3 - 学術論文

C2 - 10489057

AN - SCOPUS:0033546987

SN - 0028-3878

VL - 53

SP - 864

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JO - Neurology

JF - Neurology

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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