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Abundant co-pathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions, and ageing-related tau astrogliopathy in a family with a GBE1 mutation.

Maiko T UemuraEun Ran SuhJohn L RobinsonKurt R BrundenMurray GrossmanDavid J IrwinVirginia M-Y LeeJohn Q TrojanowskiEdward B LeeVivianna M Van Deerlin
Published in: Neuropathology and applied neurobiology (2022)
This is the first report of a family with several individuals with a FTD clinical phenotype and underlying co-pathologies of APBD, FTLD-TDP, and ARTAG with a segregating GBE1 loss-of-function mutation in affected siblings. The finding of co-pathologies of APBD and FTLD-TDP suggests these processes may share a disease mechanism resulting from this GBE1 mutation.
Keyphrases
  • amyotrophic lateral sclerosis
  • intellectual disability
  • autism spectrum disorder