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J-GLOBAL ID：202002288281358216   整理番号：20A0648711

前頭側頭型認知症およびアルツハイマー病におけるATXN1,ATXN2およびHTT中間反復の役割【JST・京大機械翻訳】

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer’s disease

著者 (50件)： Rosas Irene (Laboratorio de Genetica, Hospital Universitario Central de Asturia, Oviedo, Spain) ,  Rosas Irene (Instituto de Investigacion Sanitaria del Principado de Asturias -ISPA, Oviedo, Spain) ,  Martinez Carmen (Instituto de Investigacion Sanitaria del Principado de Asturias -ISPA, Oviedo, Spain) ,  Martinez Carmen (Servicio de Neurologia, Hospital Universitario de Cabuenes, Gijon, Spain) ,  Clarimon Jordi (Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain) ,  Clarimon Jordi (Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain) ,  Lleo Alberto (Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain) ,  Lleo Alberto (Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain) ,  Illan-Gala Ignacio (Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain) ,  Illan-Gala Ignacio (Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain) ,  Dols-Icardo Oriol (Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain) ,  Dols-Icardo Oriol (Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain) ,  Borroni Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ,  Almeida Maria Rosario (Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal) ,  van der Zee Julie (Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium) ,  van der Zee Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ,  Van Broeckhoven Christine (Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium) ,  Van Broeckhoven Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ,  Bruni Amalia C. (Regional Neurogenetic Centre, ASP CZ, Lamezia Terme, Catanzaro, Italy) ,  Anfossi Maria (Regional Neurogenetic Centre, ASP CZ, Lamezia Terme, Catanzaro, Italy) ,  Bernardi Livia (Regional Neurogenetic Centre, ASP CZ, Lamezia Terme, Catanzaro, Italy) ,  Maletta Raffaele (Regional Neurogenetic Centre, ASP CZ, Lamezia Terme, Catanzaro, Italy) ,  Serpente Maria (Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, Milan, Italy) ,  Serpente Maria (Fondazione IRCCS Ca’ Granda, Ospedale Policlinico, Neurodegenerative Diseases Unit, Milan, Italy) ,  Galimberti Daniela (Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, Milan, Italy) ,  Galimberti Daniela (Fondazione IRCCS Ca’ Granda, Ospedale Policlinico, Neurodegenerative Diseases Unit, Milan, Italy) ,  Scarpini Elio (Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, University of Milan, Milan, Italy) ,  Scarpini Elio (Fondazione IRCCS Ca’ Granda, Ospedale Policlinico, Neurodegenerative Diseases Unit, Milan, Italy) ,  Rossi Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy) ,  Caroppo Paola (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy) ,  Benussi Luisa (Fatebenefratelli Biobank Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio- Fatebenefratelli, Brescia, Italy) ,  Ghidoni Roberta (Fatebenefratelli Biobank Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio- Fatebenefratelli, Brescia, Italy) ,  Binetti Giuliano (Fatebenefratelli Biobank Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio- Fatebenefratelli, Brescia, Italy) ,  Nacmias Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence, Italy) ,  Sorbi Sandro (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence, Italy) ,  Piaceri Irene (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence, Italy) ,  Bagnoli Silvia (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence, Italy) ,  Antonell Anna (Alzheimer’s Disease and Other Cognitive Disorders Unit, Hospital Clinic, Fundacio Clinic per a la Recerca Biomedica, Institut d’Investigacions Biomeediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ,  Sanchez-Valle Raquel (Alzheimer’s Disease and Other Cognitive Disorders Unit, Hospital Clinic, Fundacio Clinic per a la Recerca Biomedica, Institut d’Investigacions Biomeediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain) ,  De la Casa-Fages Beatriz (Movement Disorders Unit, Neurology Department, Hospital General Universitario Gregorio Maranon, Madrid, Spain) ,  Grandas Francisco (Movement Disorders Unit, Neurology Department, Hospital General Universitario Gregorio Maranon, Madrid, Spain) ,  Diez-Fairen Monica (Movement Disorders Unit, Department of Neurology (P.P.), University Hospital Mutua de Terrassa, Terrasa, Barcelona, Spain) ,  Diez-Fairen Monica (Fundacio per la Recerca, Biomedica i Social Mutua de Terrassa, Terrassa, Barcelona, Spain) ,  Pastor Pau (Movement Disorders Unit, Department of Neurology (P.P.), University Hospital Mutua de Terrassa, Terrasa, Barcelona, Spain) ,  Pastor Pau (Fundacio per la Recerca, Biomedica i Social Mutua de Terrassa, Terrassa, Barcelona, Spain) ,  Ferrari Raffaele (Department of Neurodegenerative Disease, University College London, Institute of Neurology, Queen Square, London, UK) ,  Alvarez Victoria (Laboratorio de Genetica, Hospital Universitario Central de Asturia, Oviedo, Spain) ,  Alvarez Victoria (Instituto de Investigacion Sanitaria del Principado de Asturias -ISPA, Oviedo, Spain) ,  Menendez-Gonzalez Manuel (Instituto de Investigacion Sanitaria del Principado de Asturias -ISPA, Oviedo, Spain) ,  Menendez-Gonzalez Manuel (Servicio de Neurologia, Hospital Universitario Central de Asturias, Oviedo, Spain)
資料名： Neurobiology of Aging  (Neurobiology of Aging)
巻： 87  ページ： 139.e1-139.e7  発行年： 2020年 
JST資料番号： W0356A  ISSN： 0197-4580  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： いくつかの神経変性疾患におけるATXN1,ATXN2およびHTT遺伝子における中間対立遺伝子(IAs)の頻度を分析した。本研究では,アルツハイマー病(AD)患者1126名,前頭側頭葉認知症(FTD)患者440名,パーキンソン病患者610名を対象とした。すべてのコホートにおいて,ATXN1とATXN2CAGリピートを遺伝子型決定した。さらに,FTDコホートにおいて,HTT CAGリピートの数を決定した。HTT IAsの頻度は,FTD(6.9%)対対照(2.9%)およびC9orf72拡張非キャリア(7.2%)対対照(2.9%)の患者において高かったが,多重試験に対する補正後に有意差はなかった。対照と比較して,進行性非流flu性失語(PNFA)群は,HTT IAsの有意に高い頻度を示した(13.6%対2.9%対照)。ATXN2遺伝子に対して,AD症例(AD4.1%対対照1.8%)および行動FTD群(4.8%対1.8%)におけるIA頻度の増加を観察した。ATXN1遺伝子に対して,PNFA(18.6%)対対照(6.7%)の患者におけるIAsの有意な増加を見出した。結論として,本研究はHTTとATXN1 IASがPNFA病因に寄与し,ATXN2 IASとADの間の関連を示す可能性があることを示唆する。Copyright 2020 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 母集団 ,  *認知症 ,  多重化 ,  側頭葉 ,  病因 ,  遺伝子 ,  対立遺伝子 ,  *Alzheimer病 ,  Parkinson病 ,  失語
準シソーラス用語： タウオパチー ,  神経変性 ,  遺伝子タイピング ,  神経変性疾患 ,  *前頭側頭型認知症 , 【Automatic Indexing@JST】

著者キーワード (4件)： 神経変性 ,  CAG反復 ,  中間対立遺伝子 ,  タウオパチー

分類 (2件)： 神経系の疾患  (GN03000O) ,  分子遺伝学一般  (EC02010J)

タイトルに関連する用語 (4件)： 前頭側頭型認知症 ,  アルツハイマー ,  反復 ,  役割