Journal
NEUROSCIENCE LETTERS
Volume 713, Issue -, Pages -Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2019.134523
Keywords
Amyotrophic lateral sclerosis; Neurodegeneration; Immunology; C9ORF72; Proteostasis
Categories
Funding
- Amgen
- New York Stem Cell Foundation
- Tau Consortium
- NINDS [RO1 1R01NS097850-01]
- NINDS SBIR [1R44NS097094-01A1]
- Harrington Discovery Institute
- Alzheimer's Drug Discovery Foundation
- Association for Frontotemporal Dementia
- John Douglas French Alzheimer's Foundation
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Amyotrophic lateral sclerosis (ALS) is a rapidly progressing disease that affects upper and lower motor neurons eventually leading to paralysis and death by respiratory dysfunction. The most common genetic variant among ALS patients is a hexanucleotide repeat expansion within the first intron of the gene C9ORF72. This expansion elicits a complex cascade of events as a result of both gain- and loss-of-function mechanisms that contribute to neurodegeneration. Increasing evidence suggests that this repeat expansion in C9ORF72 also influences the immune homeostasis. In this review, we consolidate the current understanding of C9ORF72-mediated pathogenesis in both the central nervous system and peripheral immune system and propose mechanisms by which the immune system contributes to ALS.
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