Article
Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
Neuropathology and applied neurobiology - 1 Feb 2023
Uemura Maiko T, Suh Eun Ran, Robinson John L, Brunden Kurt R, Grossman Murray, Irwin David J, Lee Virginia M-Y, Trojanowski John Q, Lee Edward B, Van Deerlin Vivianna M
Abstract excerpt
AIMS: Adult polyglucosan body disease (APBD) is a progressive neurogenetic disorder caused by 1,4-alpha-glucan branching enzyme 1 (GBE1) mutation with an accumulation of polyglucosan bodies (PBs) in the central and peripheral nervous systems as a pathological hallmark. Here, we report two siblings in a family with a GBE1 mutation with prominent frontotemporal lobar degeneration with TAR DNA-binding protein 43...
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