New paper out in @ frontiersin.bsky.social 🧠 In 40,579 adults across two cohorts (HCHS, #ukbiobank), we show that "biological brain aging" on MRI links to poorer cognition & motor function — and mediates the link between vascular risk and functional decline.
#neuroskyence #dementia #aging
Marvin Petersen
We followed 27 children on therapy, with brain MRIs and detailed clinical assessments every 6 months over up to 2 years. A rich dataset for such a rare disease.
Brain atrophy on MRI was associated with decline in clinical scores over the same period. This suggests MRI-based measures could serve as objective markers to help track disease progression.
Notably, the atrophy wasn't uniform — it concentrated in the brain's most connected hub regions, the high-traffic areas with the greatest metabolic demand. This offers a clue as to why certain regions are especially vulnerable in CLN2. #neuroskyence
There's now an enzyme therapy (cerliponase alfa) that can slow CLN2. But clinicians lack objective tools to track how the disease and treatment progress in each child, beyond clinical observation. That gap is what we set out to address.
Together, these findings deepen our understanding of how CLN2 affects the developing brain and point toward MRI as a practical way to follow the disease and gauge whether treatments are working. Huge thanks to the families who took part, and to all collaborators!
New paper out in @jimd-editors.bsky.social. In children with CLN2 disease — a form of childhood dementia — we show that brain atrophy on MRI tracks each child's clinical decline, making brain scans a promising tool to monitor treatment of this devastating, ultra-rare disorder. #pediatrics
Across the cohort, brain atrophy was severe. The changes were often visible on the scans by eye, even between visits only 6 months apart — an indication of how quickly the disease progresses in affected children.
CLN2 is a rare genetic disease. Children develop normally at first — then around age 2–4 come seizures, loss of speech and movement, blindness, and progressive loss of skills, as neurons are destroyed. #BattenDisease #childhooddementia #raredisease
