TY - JOUR AU - Perkins, Emma M. AU - Burr, Karen AU - Banerjee, Poulomi AU - Mehta, Arpan R. AU - Dando, Owen AU - Selvaraj, Bhuvaneish T. AU - Suminaite, Daumante AU - Nanda, Jyoti AU - Henstridge, Christopher M. AU - Gillingwater, Thomas H. AU - Hardingham, Giles E. AU - Wyllie, David J. A. AU - Chandran, Siddharthan AU - Livesey, Matthew R. PY - 2021 DA - 2021/03/04 TI - Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction JO - Molecular Neurodegeneration SP - 13 VL - 16 IS - 1 AB - Physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients, including those harbouring the C9ORF72 repeat expansion (C9ORF72RE) mutation – the most common genetic impairment causal to ALS and FTD. Noting that perturbations in cortical function are evidenced pre-symptomatically, and that the cortex is associated with widespread pathology, cortical dysfunction is thought to be an early driver of neurodegenerative disease progression. However, our understanding of how altered network function manifests at the cellular and molecular level is not clear. SN - 1750-1326 UR - https://doi.org/10.1186/s13024-021-00433-8 DO - 10.1186/s13024-021-00433-8 ID - Perkins2021 ER -