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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/73421035fc64d-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× Shimada, Hitoshi× Nishioka, Kenya× Takanashi, Masashi× Hayashida, Arisa× Li, Yuanzhe× Yoshino, Hiroyo× Funayama, Manabu× Ueno, Yuji× Hatano, Taku× Sahara, Naruhiko× Suhara, Tetsuya× Higuchi, Makoto× Hattori, Nobutaka× Shimada, Hitoshi× Sahara, Naruhiko× Suhara, Tetsuya× Higuchi, Makoto |
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| 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. |
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| 書誌情報 |
Movement Disorders 巻 34, 号 4, p. 568-574, 発行日 2019-02 |
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| 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 | |||||
