23/08/2025
🧠 GLYMPHATIC INSUFFICIENCY, ACCELERATED AGING and NEURONAL DEGENERATION in an ADULT WITH DRAVET SYNDROME.
We are honoured to share our latest study, which provides the first neuropathological insights into aging in Dravet Syndrome (DS).
In this deeply collaborative effort, we analyzed the donated brain of a courageous 55-year-old woman with DS who lived with seizures, parkinsonism, and cognitive decline. Thanks to her family’s extraordinary generosity, we uncovered:
🔹 Striking excess and several layers of corpora amylacea (wasteosomes) covering the whole convexity of the brain.
🔹 p62-positive neuritic pathology, TMEM106B deposits, and aquaporin-4 excess
🔹 neuronal loss in the substantia nigra, neocortex, and hippocampus and severe Purkinje cell loss
🔹 No signs of classical proteinopathies (e.g., α-synuclein, TDP-43, amyloid-β)
These findings point to an accelerated aging and neurodegenerative process, offering a new lens through which to understand the lifelong trajectory of DS.
🧬 This work supports what we are seeing clinically: Dravet Syndrome is not “only” developmental. It reinforces the urgent need for lifespan care, long-term monitoring, and natural history studies going beyond adolescence or early adulthood.
To the family who made this possible: your gift will change how we see and care for adults with DS. We are profoundly grateful. 💜
Gabor G. Kovacs, Alfonso Fasano, Carmela Tartaglia, Quratulain Zulfiqar Ali, Victor Lira, Nicolai Reyes, Anne Bassett. University Health Network Krembil Research Institute Dravet Syndrome FoundationFundación Síndrome de Dravet Fundación Dravet Latam
