Infantile ceroid neuro-lipofuscinosis: Linking autophagy, altered chloride homeostasis, and enhanced brain excitability
Melissa Santi, Simone Giubbolini, Giacomo Pasquini, Tommaso Garavaldi, Vinoshene Pillai, Gabriele Nardi, Gian Michele Ratto, Silvia Landi · FENS Forum 2024
Infantile neuronal ceroid lipofuscinosis (INCL) is a rare lysosomal storage disorder caused by mutations in the Cln1 gene, which encodes the Palmitoyl-Protein Thioesterase 1 (PPT1) enzyme. Like human patients, mutant mice exhibit defective autophagy, leading to widespread neuronal death accompanied by symptoms such as epilepsy, retinal and cortical degeneration, and premature death (Gupta, 2001). However, the precise mechanism linking Cln1 mutation to hyperexcitability and altered brain processing remains poorly understood. First, video-recordings in an open field arena demonstrated that CLN1
ePoster · Neuroscience