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

Acta Neuropathol. 2019 May;137(5):855-858. doi: 10.1007/s00401-019-01996-z. Epub 2019 Mar 27.

Lieselot Dedeene^{1

2

3

4}, Evelien Van Schoor^{2

4}, Valérie Race⁵, Matthieu Moisse⁴, Rik Vandenberghe^{6

7}, Koen Poesen^{1

3}, Philip Van Damme^{4

7}, Dietmar Rudolf Thal^{8

9}

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

No abstract available

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

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