Journal
EMBO JOURNAL
Volume 36, Issue 20, Pages 2931-2950Publisher
WILEY
DOI: 10.15252/embj.201797568
Keywords
ALS; C9ORF72; FTD; FUS; TDP-43
Categories
Funding
- National Institutes of Health [R01NS057553, R01NS079725]
- MDA Foundation
- Packard Center for ALS Research
- Target ALS Foundation
- ALS Association
- Frick Foundation for ALS Research
- Alzheimer's Association [NIRG-396129]
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Frontotemporal dementia (FTD), the second most common form of dementia in people under 65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes. FTD overlaps extensively with the motor neuron disease amyotrophic lateral sclerosis (ALS), especially at the genetic level. Both FTD and ALS can be caused by many mutations in the same set of genes; the most prevalent of these mutations is a GGGGCC repeat expansion in the first intron of C9ORF72. As shown by recent intensive studies, some key cellular pathways are dysregulated in the ALS-FTD spectrum disorder, including autophagy, nucleocytoplasmic transport, DNA damage repair, pre-mRNA splicing, stress granule dynamics, and others. These exciting advances reveal the complexity of the pathogenic mechanisms of FTD and ALS and suggest promising molecular targets for future therapeutic interventions in these devastating disorders.
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