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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 20, 2019 - Issue 7-8
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Genomics

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

Veronica Hirsch-ReinshagenDivision of Neuropathology, University of British Columbia, Vancouver, Canada, ORCID Iconhttp://orcid.org/0000-0003-0530-871XView further author information
ORCID Icon,
Omar A. AlfaifyDivision of Neurology, University of British Columbia, Vancouver, Canada, and View further author information
,
Ging-Yuek R. HsiungDivision of Neurology, University of British Columbia, Vancouver, Canada, and View further author information
,
Cyril PottierDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USAORCID Iconhttp://orcid.org/0000-0002-3049-9346View further author information
ORCID Icon,
Matt BakerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USAView further author information
,
Ralph B. Perkerson IIIDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USAView further author information
,
Rosa RademakersDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USAView further author information
,
Hanna BriembergDivision of Neurology, University of British Columbia, Vancouver, Canada, and View further author information
,
Dean J. FotiDivision of Neurology, University of British Columbia, Vancouver, Canada, and View further author information
&
Ian R. MackenzieDivision of Neuropathology, University of British Columbia, Vancouver, Canada, Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0003-3875-2972View further author information
ORCID Icon show all
Pages 568-575 | Received 10 Apr 2019, Accepted 04 Jun 2019, Published online: 27 Jun 2019

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Eva M. J. de Boer, Koen C. Demaegd, Charlotte I. de Bie, Jan H. Veldink, Leonard H. van den Berg & Michael A. van Es. (2023) Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 0:0, pages 1-8.
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Alberto Benussi & Barbara Borroni. (2023) Advances in the treatment and management of frontotemporal dementia. Expert Review of Neurotherapeutics 23:7, pages 621-639.
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Marcello Giunta, Eino Solje, Fabrizio Gardoni, Barbara Borroni & Alberto Benussi. (2021) Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration. Journal of Experimental Pharmacology 13, pages 359-376.
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Ian R. A. Mackenzie. (2020) Neuropathology of primary lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:sup1, pages 47-51.
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Ian R. A. Mackenzie & Hannah Briemberg. (2020) TDP-43 pathology in primary lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:sup1, pages 52-58.
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Articles from other publishers (15)

Bi Zhao, Qirui Jiang, Junyu Lin, Qianqian Wei, Chunyu Li, Yanbing Hou, Bei Cao, Lingyu Zhang, Ruwei Ou, Kuncheng Liu, Tianmi Yang, Yi Xiao & Huifang Shang. (2023) TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features . European Journal of Neurology 30:10, pages 3079-3089.
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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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Kaitlin Seibert, Heather Smith, Allison Lapins, Peter Pytel & James A. Mastrianni. (2022) A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report. Frontiers in Neurology 13.
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P. Bede, P.-F. Pradat, J. Lope, P. Vourc’h, H. Blasco & P. Corcia. (2022) Primary Lateral Sclerosis: Clinical, radiological and molecular features. Revue Neurologique 178:3, pages 196-205.
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Valentina Borghesani, Jessica DeLeon & Maria Luisa Gorno-Tempini. 2022. The Temporal Lobe. The Temporal Lobe 429 448 .
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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Mary Clare McKenna, Philippe Corcia, Philippe Couratier, We Fong Siah, Pierre-Francois Pradat & Peter Bede. (2021) Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging. Frontiers in Neurology 12.
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Philippe Corcia, Christian Lunetta, Philippe Couratier, Patrick Vourc'h, Marta Gromicho, Claude Desnuelle, Marie‐Hélène Soriani, Susana Pinto & Mamede Carvalho. (2021) Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum. European Journal of Neurology 28:8, pages 2780-2783.
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Hiu Chuen Lok & John B. Kwok. (2021) The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics. International Journal of Molecular Sciences 22:5, pages 2541.
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Imogen J. Swift, Martina Bocchetta, Hanya Benotmane, Ione OC. Woollacott, Rachelle Shafei & Jonathan D. Rohrer. (2021) Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature. Neurobiology of Aging 99, pages 100.e9-100.e15.
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Manuela Neumann, Edward B. Lee & Ian R. Mackenzie. 2021. Frontotemporal Dementias. Frontotemporal Dementias 201 217 .
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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Francesca Caso, Federica Agosta, Giuseppe Magnani, Rosalinda Cardamone, Valentina Borghesani, Zachary Miller, Nilo Riva, Renaud La Joie, Giovanni Coppola, Lea T. Grinberg, William W. Seeley, Bruce L. Miller, Maria Luisa Gorno-Tempini & Massimo Filippi. (2020) Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies. Brain Imaging and Behavior 14:2, pages 336-345.
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Ian R. Mackenzie & Manuela Neumann. (2019) Subcortical TDP-43 pathology patterns validate cortical FTLD-TDP subtypes and demonstrate unique aspects of C9orf72 mutation cases. Acta Neuropathologica 139:1, pages 83-98.
Crossref
Eoin Finegan, Stacey Li Hi Shing, Rangariroyashe H. Chipika, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Colette Donaghy, Niall Pender, Russell L. McLaughlin, Orla Hardiman & Peter Bede. (2019) Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling. NeuroImage: Clinical 24, pages 102089.
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