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Neurocase
Behavior, Cognition and Neuroscience
Volume 24, 2018 - Issue 5-6
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TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

M. González-SánchezDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, SpainCorrespondence[email protected]
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V. Puertas-MartínDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain
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J. Esteban-PérezDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;ALS Unit, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Centre on Rare Diseases (CIBERER), Madrid, Spain
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A. García-RedondoALS Unit, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Centre on Rare Diseases (CIBERER), Madrid, Spain
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D. Borrego-HernándezALS Unit, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain
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A. Méndez-GuerreroDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain
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S. Llamas-VelascoDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, Spain
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A. Herrero-San MartínDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, Spain
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P. Cordero-VázquezDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;ALS Unit, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain
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M. C. Herrero-MansoDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain
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D. A. Pérez-MartínezDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, Spain;Complutense University of Madrid, Madrid, Spain
&
A. Villarejo-GalendeDepartment of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain;Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain;Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, Spain;Complutense University of Madrid, Madrid, Spain
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Pages 301-305 | Received 18 Dec 2017, Accepted 01 Feb 2019, Published online: 16 Feb 2019

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Chiara Zecca, Rosanna Tortelli, Paola Carrera, Maria Teresa Dell’Abate, Giancarlo Logroscino & Maurizio Ferrari. (2023) Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches. Critical Reviews in Clinical Laboratory Sciences 60:3, pages 171-188.
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Articles from other publishers (10)

Jing Xu, Yanmin Xia, Meng Meng, Fang Liu, Ping Che, Yanxin Zhang, Ying Wang, Li Cai, Wen Qin & Nan Zhang. (2023) Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation. Alzheimer's Research & Therapy 15:1.
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Edoardo Nicolò Aiello, Sarah Feroldi, Giulia De Luca, Lucilla Guidotti, Eleonora Arrigoni, Ildebrando Appollonio, Federica Solca, Laura Carelli, Barbara Poletti, Federico Verde, Vincenzo Silani & Nicola Ticozzi. (2022) Primary progressive aphasia and motor neuron disease: A review. Frontiers in Aging Neuroscience 14.
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M Marsel Mesulam, Christina A Coventry, Eileen H Bigio, Jaiashre Sridhar, Nathan Gill, Angela J Fought, Hui Zhang, Cynthia K Thompson, Changiz Geula, Tamar Gefen, Margaret Flanagan, Qinwen Mao, Sandra Weintraub & Emily J Rogalski. (2022) Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia. Brain 145:6, pages 2133-2148.
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Dario Saracino, Amandine Géraudie, Anne M. Remes, Sophie Ferrieux, Marie Noguès-Lassiaille, Simona Bottani, Lorenzo Cipriano, Marion Houot, Aurélie Funkiewiez, Agnès Camuzat, Daisy Rinaldi, Marc Teichmann, Jérémie Pariente, Philippe Couratier, Claire Boutoleau-Bretonnière, Sophie Auriacombe, Frédérique Etcharry-Bouyx, Richard Levy, Raffaella Migliaccio, Eino Solje, Isabelle Le Ber, Sophie Auriacombe, Serge Belliard, Frédéric Blanc, Eve Benchetrit, Hugo Bertin, Claire Boutoleau-Bretonnière, Anne Bertrand, Anne Bissery, Stéphanie Bombois, Marie-Paule Boncoeur, Alexis Brice, Mathieu Ceccaldi, Mathieu Chastan, Yaohua Chen, Marie Chupin, Olivier Colliot, Philippe Couratier, Xavier Delbeuck, Christine Delmaire, Vincent Deramecourt, Mira Didic, Charles Duyckaerts, Frédérique Etcharry-Bouyx, Maïté Formaglio, Emmanuel Gerardin, Véronique Golfier, Marie-Odile Habert, idier Hannequin, Lucette Lacomblez, Julien Lagarde, Géraldine Lautrette, Isabelle Le Ber, Benjamin Le Toullec, Marie-Anne Mackowiak, Olivier Martinaud, Bernard-François Michel, Jacques Monteil, Assi-Hervé Oya, Jérémie Pariente, Florence Pasquier, Grégory Petyt, Daisy Rinaldi, Adeline Rollin-Sillaire, Carole Roué-Jagot, Sabrina Sayah, Marie Sarazin, Christel Thauvin-Robinet, Catherine Thomas-Anterion, François Sellal, Martine Vercelletto & David Wallon. (2021) Primary progressive aphasias associated with C9orf72 expansions: Another side of the story. Cortex 145, pages 145-159.
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Eirini Charoniti, Vasiliki Papastefanopoulou, Chryseis Florou-Hatziyiannidou, Christos Koros, Evangelia Stanitsa, John D. Papatriantafyllou, Sokratis G. Papageorgiou & Christos Kroupis. (2021) TARDBP p.I383V, a recurrent alteration in Greek FTD patients. Journal of the Neurological Sciences 428, pages 117566.
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Feng Feng, Hongfen Wang, Jiajin Liu, Zhanjun Wang, Baixuan Xu, Kun Zhao, Xiaoyong Tao, Zhengqing He, Fei Yang & Xusheng Huang. (2021) Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations . Brain and Behavior 11:8.
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Hulya Ulugut Erkoyun, Sven J. van der Lee, Bas Nijmeijer, Rosalina van Spaendonk, Anne Nelissen, Marta Scarioni, Anke Dijkstra, Bedia Samancı, Hakan Gürvit, Zerrin Yıldırım, Fatih Tepgeç, Basar Bilgic, Frederik Barkhof, Annemieke Rozemuller, Wiesje M. van der Flier, Philip Scheltens, Petra Cohn-Hokke & Yolande Pijnenburg. (2021) The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series. Journal of Alzheimer's Disease 79:3, pages 1195-1201.
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Jeroen van Rooij, Merel O Mol, Shamiram Melhem, Pelle van der Wal, Pascal Arp, Francesca Paron, Laura Donker Kaat, Harro Seelaar, Suzanne S M Miedema, Takuya Oshima, Bart J L Eggen, André Uitterlinden, Joyce van Meurs, Ronald E van Kesteren, August B Smit, Emanuele Buratti & John C van Swieten. (2020) Somatic TARDBP variants as a cause of semantic dementia . Brain 143:12, pages 3827-3841.
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Eduardo Europa, Leonardo Iaccarino, David C. Perry, Elizabeth Weis, Ariane E. Welch, Gil D. Rabinovici, Bruce L. Miller, Maria Luisa Gorno-Tempini & Maya L. Henry. (2020) Diagnostic Assessment in Primary Progressive Aphasia: An Illustrative Case Example. American Journal of Speech-Language Pathology 29:4, pages 1833-1849.
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Suvi Häkkinen, Stephanie A. Chu & Suzee E. Lee. (2020) Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiology of Disease 145, pages 105063.
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