Brain network changes were detected across clinical stages in C9orf72 carriers
Original source
Longitudinal functional network connectivity changes across the clinical stages of C9orf72 hexanucleotide repeat expansion carriers. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
- Peer review
- Preprint, not yet peer reviewed
Population inferred from the title and abstract by Compass.
Related topics
A neuroimaging study found stage-specific changes in functional brain connectivity among people carrying a C9orf72 repeat expansion. Changes were detected in asymptomatic, prodromal and symptomatic carriers, including before measurable gray-matter decline. In asymptomatic carriers, connectivity changes were associated with baseline neurofilament light chain levels; in prodromal and symptomatic carriers, changes were associated with neurofilament light chain levels and symptom severity.
Why this matters
The findings suggest that task-free functional magnetic resonance imaging may help track disease-related changes before and during symptoms in C9orf72 carriers. This was an observational imaging study and does not currently change treatment or show that imaging can predict an individual’s disease course.
Limitations and context
The report is a medRxiv preprint and should be considered preliminary. It included 36 asymptomatic, 17 prodromal and 29 symptomatic carriers, compared with 107 healthy controls. The study found associations, not proof that connectivity changes cause progression or that imaging will benefit clinical care. Further research is needed to establish trajectories in carriers who progress or develop different C9orf72-associated syndromes.