Journal
TRENDS IN NEUROSCIENCES
Volume 36, Issue 8, Pages 450-459Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tins.2013.04.010
Keywords
C9orf72; amyotrophic lateral sclerosis; frontotemporal lobar degeneration; TDP43-proteinopathy; repeat expansion diseases; neurodegeneration
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Funding
- Interuniversity Attraction Poles (IAP) program of the Belgian Science Policy Office (BELSPO)
- Europe initiative on Centers of Excellence in Neurodegeneration (CoEN)
- Methusalem Excellence program
- Flemish Government
- Foundation for Alzheimer Research (SAO-FRA)
- Medical Foundation Queen Elisabeth (QEMF)
- Research Foundation Flanders (FWO)
- Agency for Innovation by Science and Technology Flanders (IWT)
- Research Fund of the University of Antwerp, Belgium
- MetLife Foundation
- IWT
- FWO
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An expanded G(4)C(2) hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum. Although primarily characterized by variably abundant pathological inclusions of TDP-43 protein, the lesion load was extended to TDP-43-negative, p62-positive neuronal and glial inclusions in extended regions of the central nervous system (CNS), particularly in cerebellum, where they may be characteristic of a C9orf72 repeat expansion. Disease mechanisms associated with repeat expansion disorders, including haploinsufficiency, RNA toxicity, and abnormal translation of expanded repeat sequences, are beginning to emerge. We review genetic, clinical, and pathological highlights and discuss current insights into the biology of this novel type of repeat expansion disease.
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