Topic: Lafora disease

This investigators workshop examines adeno-associated virus gene therapies for epilepsy from design and animal testing through clinical translation. Research examples concern Lafora disease, SCN1B-related Dravet syndrome and SLC6A1-related neurodevelopmental disorder. The panel considers treatment efficacy, seizure-associated adverse effects and AAV toxicity, alongside strategies for overcoming current limitations. Discussion also covers biomarkers, scalability and the evidence needed to advance candidates beyond preclinical studies. Sunday 6 December, 14:00–15:30 Mountain Standard Time (Amer

Progressive myoclonus epilepsies (PMEs) represent a group of epilepsy disorders that begin in adolescence and are inherited in an autosomal recessive manner. PME patients exhibit a range of symptoms, including seizures, ataxia, muscle atrophy, dementia, psychosis, and hallucinations. The majority of these subsequent symptoms are likewise observed in older individuals, indicating the potential involvement of the PME genes in the process of aging. A recent study conducted by our group has shown that the expression of PME genes shows an inverse association with age in the normal brain. Since the

Astrocytes are indispensable for brain function, yet show signs of age-related impairments. Importantly, these impairments can manifest, as shown in hippocampal astrocytes, in the form of a buildup of hypobranched glycogen molecules, known as polyglucosan bodies (PGBs). Although diseases like adult polyglucosan body disease and Lafora disease link PGBs to cognitive decline, the mechanism and clinical relevance of age-related PGB accumulation remain unclear. In our study of 32 fully sequenced BXD-type mouse strains, we observed a 400-fold variation in PGB burden among 16–18-month-old females. W