Brain scan patterns mark early changes in inherited dementia
In a cross-sectional study of 892 people, combined brain measurements helped distinguish mutation carriers with early symptoms from relatives without those mutations.
Our read
Biomarkers- Studied:
- Cross-sectional study of 892 frontotemporal dementia mutation carriers and relatives
- What changed:
- Grey matter volume and cortical thickness were lower across brain regions in dementia mutation carriers than in mutation-negative relatives
- The catch:
- Correlations with follow-up scores had reduced sample sizes of n=11, n=12, and n=8
- In the record:
- The 13th paper on C9ORF72 with results in people; 63 on record in all.
Editor of record: Boris Djordjevic · AgingResearch.News
The 892 participants in a cross-sectional observational study included carriers of mutations causing frontotemporal dementia and first-degree relatives without those mutations. Carriers ranged from people without symptoms to those with symptomatic disease. Researchers measured the thickness and volume of gray matter, brain tissue containing nerve cell bodies, and combined measurements from several regions.
Carriers of mutations in the C9orf72 gene showed widespread gray matter differences before symptoms. Carriers of mutations in the MAPT and especially GRN genes showed changes closer to symptom onset. Gene-specific combinations of measurements distinguished carriers with early symptoms from relatives without the mutations. Their ability to distinguish carriers without symptoms varied by gene.
Why it matters
Frontotemporal dementia can alter brain structure decades before symptoms. Tracking that early course could help researchers assess disease progression and treatment effects in clinical trials.
Caveats
Comparisons across disease stages did not track individuals’ brain changes over time, and researchers selected regions because they already differed between groups. The authors called for validation in studies following people over time.
- Imaging
- Frontotemporal dementia
- Composite gray matter signatures
- Cortical thickness
- Gray matter volume
- Humans
The paper
Composite grey matter fingerprints for genetic frontotemporal dementia
Pitié-Salpêtrière Hospital; Assistance Publique – Hôpitaux de Paris
Journal of Neurology, Neurosurgery, and Psychiatry, Feb 13, 2026, Open access
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