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

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作者： Lieselot,Dedeene ^[1] ; Evelien,Van Schoor ^[2] ; Valérie,Race ^[3] ; Matthieu,Moisse ^[4] ; Rik,Vandenberghe ^[2] ; Koen,Poesen ^[4] ; Philip,Van Damme ^[5] ; Dietmar Rudolf,Thal ^[4]

作者单位： Department of Neurosciences, Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium. ^[1] Department of Neurosciences, Laboratory for Neuropathology, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium. ^[2] Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. ^[3] Department of Neurosciences, Laboratory for Neurobiology, KU Leuven and Center for Brain & Disease Research, VIB, Leuven Brain Institute (LBI), Leuven, Belgium. ^[4] Laboratory for Molecular Diagnostics, Center for Human Genetics, KU Leuven, Leuven, Belgium. ^[5] Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium. ^[6] Department of Neurology, University Hospitals Leuven, Leuven, Belgium. ^[7] Department of Neurosciences, Laboratory for Neuropathology, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium. dietmar.thal@kuleuven.be. ^[8] Department of Pathology, University Hospitals Leuven, Leuven, Belgium. dietmar.thal@kuleuven.be. ^[9]

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