Clinicopathologic correlations in a family with a <i>TBK1</i> mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Hirsch-Reinshagen, Veronica; Alfaify, Omar A; Hsiung, Ging-Yuek R; Pottier, Cyril; Baker, Matt; Perkerson, Ralph B; Rademakers, Rosa; Briemberg, Hanna; Foti, Dean J; Mackenzie, Ian R

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

Hirsch-Reinshagen, Veronica; Alfaify, Omar A; Hsiung, Ging-Yuek R; Pottier, Cyril; Baker, Matt; Perkerson, Ralph B; Rademakers, Rosa; Briemberg, Hanna; Foti, Dean J; Mackenzie, Ian R.

Afiliação

Hirsch-Reinshagen V; Division of Neuropathology, University of British Columbia , Vancouver , Canada.
Alfaify OA; Division of Neurology, University of British Columbia , Vancouver , Canada , and.
Hsiung GR; Division of Neurology, University of British Columbia , Vancouver , Canada , and.
Pottier C; Department of Neuroscience, Mayo Clinic , Jacksonville , FL , USA.
Baker M; Department of Neuroscience, Mayo Clinic , Jacksonville , FL , USA.
Perkerson RB; Department of Neuroscience, Mayo Clinic , Jacksonville , FL , USA.
Rademakers R; Department of Neuroscience, Mayo Clinic , Jacksonville , FL , USA.
Briemberg H; Division of Neurology, University of British Columbia , Vancouver , Canada , and.
Foti DJ; Division of Neurology, University of British Columbia , Vancouver , Canada , and.
Mackenzie IR; Division of Neuropathology, University of British Columbia , Vancouver , Canada.

Amyotroph Lateral Scler Frontotemporal Degener ; 20(7-8): 568-575, 2019 11.

Article em En | MEDLINE | ID: mdl-31244341

Assuntos

Esclerose Lateral Amiotrófica/genética; Doença dos Neurônios Motores/genética; Mutação/genética; Proteínas Serina-Treonina Quinases/genética; Idoso; Esclerose Lateral Amiotrófica/diagnóstico; Encéfalo/patologia; Humanos; Masculino; Doença dos Neurônios Motores/diagnóstico; Fenótipo

Palavras-chave

TBK1; TDP-43; neuropathology; primary lateral sclerosis; primary progressive aphasia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Proteínas Serina-Treonina Quinases / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Diagnostic_studies Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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