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  1. 原著論文

Clinical Heterogeneity of Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 Caused by MAPT N279K Mutation in Relation to Tau Positron Emission Tomography Features

https://repo.qst.go.jp/records/73421
https://repo.qst.go.jp/records/73421
035fc64d-4c51-4532-a75e-bbbe927fdc5b
Item type 学術雑誌論文 / Journal Article(1)
公開日 2019-02-18
タイトル
タイトル Clinical Heterogeneity of Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 Caused by MAPT N279K Mutation in Relation to Tau Positron Emission Tomography Features
言語
言語 eng
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
アクセス権
アクセス権 metadata only access
アクセス権URI http://purl.org/coar/access_right/c_14cb
著者 Ikeda, Aya

× Ikeda, Aya

WEKO 865156

Ikeda, Aya

Search repository
Shimada, Hitoshi

× Shimada, Hitoshi

WEKO 865157

Shimada, Hitoshi

Search repository
Nishioka, Kenya

× Nishioka, Kenya

WEKO 865158

Nishioka, Kenya

Search repository
Takanashi, Masashi

× Takanashi, Masashi

WEKO 865159

Takanashi, Masashi

Search repository
Hayashida, Arisa

× Hayashida, Arisa

WEKO 865160

Hayashida, Arisa

Search repository
Li, Yuanzhe

× Li, Yuanzhe

WEKO 865161

Li, Yuanzhe

Search repository
Yoshino, Hiroyo

× Yoshino, Hiroyo

WEKO 865162

Yoshino, Hiroyo

Search repository
Funayama, Manabu

× Funayama, Manabu

WEKO 865163

Funayama, Manabu

Search repository
Ueno, Yuji

× Ueno, Yuji

WEKO 865164

Ueno, Yuji

Search repository
Hatano, Taku

× Hatano, Taku

WEKO 865165

Hatano, Taku

Search repository
Sahara, Naruhiko

× Sahara, Naruhiko

WEKO 865166

Sahara, Naruhiko

Search repository
Suhara, Tetsuya

× Suhara, Tetsuya

WEKO 865167

Suhara, Tetsuya

Search repository
Higuchi, Makoto

× Higuchi, Makoto

WEKO 865168

Higuchi, Makoto

Search repository
Hattori, Nobutaka

× Hattori, Nobutaka

WEKO 865169

Hattori, Nobutaka

Search repository
Shimada, Hitoshi

× Shimada, Hitoshi

WEKO 865170

en Shimada, Hitoshi

Search repository
Sahara, Naruhiko

× Sahara, Naruhiko

WEKO 865171

en Sahara, Naruhiko

Search repository
Suhara, Tetsuya

× Suhara, Tetsuya

WEKO 865172

en Suhara, Tetsuya

Search repository
Higuchi, Makoto

× Higuchi, Makoto

WEKO 865173

en Higuchi, Makoto

Search repository
抄録
内容記述タイプ Abstract
内容記述 BACKGROUND:

While mechanistic links between tau abnormalities and neurodegeneration have been proven in frontotemporal dementia and parkinsonism linked to chromosome 17 caused by MAPT mutations, variability of the tau pathogenesis and its relation to clinical progressions in the same MAPT mutation carriers are yet to be clarified.

OBJECTIVES:

The present study aimed to analyze clinical profiles, tau accumulations, and their correlations in 3 kindreds with frontotemporal dementia and parkinsonism linked to chromosome 17 attributed to the MAPT N279K mutation.

METHODS:

Four patients with N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT underwent [11 C]PBB3-PET to estimate regional tau loads.

RESULTS:

Haplotype assays revealed that these kindreds originated from a single founder. Despite homogeneity of the disease-causing MAPT allele, clinical progression was more rapid in 2 kindreds than in the other. The kindred with slow progression showed mild tau depositions, mostly confined to the midbrain and medial temporal areas. In contrast, kindreds with rapid progression showed profoundly increased [11 C]PBB3 binding in widespread regions from an early disease stage.

CONCLUSIONS:

[11 C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. Our findings indicate that, in addition to the mutated MAPT allele, genetic and/or epigenetic modifiers of tau pathologies lead to heterogeneous clinicopathological features. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
書誌情報 Movement Disorders

巻 34, 号 4, p. 568-574, 発行日 2019-02
出版者
出版者 Wiley
ISSN
収録物識別子タイプ ISSN
収録物識別子 0885-3185
PubMed番号
識別子タイプ PMID
関連識別子 30773680
DOI
識別子タイプ DOI
関連識別子 10.1002/mds.27623
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