Abstract
ALS is a relentless neurodegenerative disease in which motor neurons are the susceptible neuronal population. Their death results in progressive paresis of voluntary and respiratory muscles. The unprecedented rate of discoveries over the last two decades have broadened our knowledge of genetic causes and helped delineate molecular pathways. Here we critically review ALS epidemiology, genetics, pathogenic mechanisms, available animal models, and iPS cell technologies with a focus on their translational therapeutic potential. Despite limited clinical success in treatments to date, the new discoveries detailed here offer new models for uncovering disease mechanisms as well as novel strategies for intervention.
Keywords
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Learn about institutional subscriptionsAbbreviations
- ALS:
-
Amyotrophic lateral sclerosis
- ATXN2:
-
Ataxin 2
- C9ORF72:
-
Chromosome 9 open reading frame 72
- FTD:
-
Fronto-temporal dementia (FTD)
- FUS/TLS:
-
Fused in sarcoma/translocated in liposarcoma
- HRE:
-
Hexanucleotide repeat expansion
- SOD1:
-
Superoxide dismutase 1
- TDP-43:
-
43 kDa, transactive response DNA/RNA-binding protein
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Ilieva, H., Maragakis, N.J. (2017). Motoneuron Disease: Basic Science. In: Beart, P., Robinson, M., Rattray, M., Maragakis, N. (eds) Neurodegenerative Diseases. Advances in Neurobiology, vol 15. Springer, Cham. https://doi.org/10.1007/978-3-319-57193-5_6
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