Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in <i>Epm2b</i>-Deficient Mice.

ABSTRACT: Lafora disease is a fatal neurodegenerative disorder caused by loss-of-function mutations in the EPM2A or EPM2B genes, which encode laforin and malin, respectively. These mutations lead to the accumulation of intracellular inclusions of abnormal glycogen, known as Lafora bodies, the hallmark of the disease. Symptoms typically begin in early adolescence with seizures and rapidly progress to cognitive and motor decline, ultimately resulting in dementia and death within a decade of onset. Disruption of Epm2a or Epm2b in mice causes neuronal degeneration and Lafora body accumulation in the brain and other tissues. Epm2a^-/- and Epm2b^-/- mice exhibit motor and memory impairments, epileptic activity, and molecular and histological ab

SUBMITTER: Zafra-Puerta L 

PROVIDER: S-EPMC12732665 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature