An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.

Dedeene, Lieselot; Van Schoor, Evelien; Race, Valérie; Moisse, Matthieu; Vandenberghe, Rik; Poesen, Koen; Van Damme, Philip; Thal, Dietmar Rudolf

Dedeene, Lieselot; Van Schoor, Evelien; Race, Valérie; Moisse, Matthieu; Vandenberghe, Rik; Poesen, Koen; Van Damme, Philip; Thal, Dietmar Rudolf.

Afiliação

Dedeene L; Department of Neurosciences, Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium.
Van Schoor E; Department of Neurosciences, Laboratory for Neuropathology, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium.
Race V; Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
Moisse M; Department of Neurosciences, Laboratory for Neurobiology, KU Leuven and Center for Brain & Disease Research, VIB, Leuven Brain Institute (LBI), Leuven, Belgium.
Vandenberghe R; Department of Neurosciences, Laboratory for Neuropathology, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium.
Poesen K; Department of Neurosciences, Laboratory for Neurobiology, KU Leuven and Center for Brain & Disease Research, VIB, Leuven Brain Institute (LBI), Leuven, Belgium.
Van Damme P; Laboratory for Molecular Diagnostics, Center for Human Genetics, KU Leuven, Leuven, Belgium.
Thal DR; Department of Neurosciences, Laboratory for Neurobiology, KU Leuven and Center for Brain & Disease Research, VIB, Leuven Brain Institute (LBI), Leuven, Belgium.

Acta Neuropathol ; 137(5): 855-858, 2019 05.

Article em En | MEDLINE | ID: mdl-30919029

Assuntos

Esclerose Lateral Amiotrófica/genética; Esclerose Lateral Amiotrófica/patologia; Encéfalo/patologia; Proteína C9orf72/genética; Expansão das Repetições de DNA; Proteínas de Ligação a DNA/metabolismo; Idoso; Esclerose Lateral Amiotrófica/metabolismo; Encéfalo/metabolismo; Proteína C9orf72/metabolismo; Evolução Fatal; Humanos; Masculino; Medula Espinal/metabolismo; Medula Espinal/patologia

Palavras-chave

Amyotrophic lateral sclerosis; C9orf72 repeat expansion; Dipeptide repeat proteins; Transactive response DNA-binding protein 43 kDa

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Expansão das Repetições de DNA / Proteínas de Ligação a DNA / Proteína C9orf72 / Esclerose Lateral Amiotrófica Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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