Abstract
In 2011, an intronic (G4C2)•(G2C4) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.
| Original language | English |
|---|---|
| Pages (from-to) | 247-250 |
| Number of pages | 4 |
| Journal | Trends in Neurosciences |
| Volume | 41 |
| Issue number | 5 |
| DOIs | |
| State | Published - May 2018 |
Keywords
- ALS
- C9orf72
- CCGGGG
- FTD
- GGGGCC
- RAN translation
- RNA foci
- amyotrophic lateral sclerosis
- frontotemporal dementia
- repeat-associated non-ATG translation
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