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Breakdown in the synaptic vesicle cycle defines early and reversible cortical pathogenesis in ALS

Laszlo, Z. I.; Sanchez-Avila, A.; McFarlane, A.; van der Hoorn, D.; San Gil, R.; Spires-Jones, T. L.; Gillingwater, T. H.; Walker, A. K.; Henstridge, C. M.

2026-08-25 neuroscience
10.64898/2026.08.21.746168 bioRxiv
Show abstract

Synaptic failure is considered an early driver of Amyotrophic Lateral Sclerosis (ALS), yet identifying the molecular events initiating synaptic decline remains challenging in end-stage human tissue. Here, we exploit the late involvement of the primary visual cortex (Brodmann Area 17 (BA17)) to investigate early disease-associated changes in human ALS. Structural analyses revealed neuropil compaction, presynaptic terminal shrinkage, and synaptic degeneration despite preservation of local neuronal populations. Deep synaptoneurosome proteomics identified a regional signature characterised by disruption of presynaptic vesicle cycling, which closely resembles early pathological changes observed in the inducible human TDP-43 rNLS8 mouse model. Importantly, suppression of TDP-43 expression in vivo restored these proteomic alterations, highlighting recovery of presynaptic vesicle machinery within preserved synaptic structures. Together, these findings reveal early synaptic pathology as a distinct and potentially reversible stage of ALS neurodegeneration.

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