Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.

ABSTRACT: Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the EPM2A or NHLRC1/EPM2B genes that usually appears during adolescence. The Epm2a^-/- and Epm2b^-/- knock-out mouse models of the disease develop behavioral and neurological alterations similar to those observed in patients. The aim of this work is to analyze whether early treatment with metformin (from conception to adulthood) ameliorates the formation of Lafora bodies and improves the behavioral and neurological outcomes observed with late treatment (during 2 months at 10 months of age). We also evaluated the benefits of metformin in patients with Lafora disease. To assess neurological improvements due to metformin administration in the two mouse models, we evaluated the effects o

SUBMITTER: Burgos DF 

PROVIDER: S-EPMC10119355 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature