A new C9ORF72 mouse model develops mild motor weakness and ALS/FTD-related pathology
Original source
Intrathecal (G4C2)149 delivery in C9orf72-deficient mice yields mild motor dysfunction and ALS/FTD pathological hallmarks. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human, Mouse
Related topics
Researchers delivered an adeno-associated virus carrying C9ORF72 repeat sequences into newborn mice, including mice with reduced C9ORF72. The mice developed mild, progressive muscle weakness and several spinal cord changes linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Why this matters
The model may help researchers study how C9ORF72 repeat expansion and reduced C9ORF72 contribute to disease. It was tested in mice and does not change treatment for people with ALS or FTD.
Limitations and context
This was a primary research study in mice, using neonatal intrathecal viral delivery. The resulting disease features were mild, and the findings have not established that the model predicts treatment effects or disease progression in people.