title: Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease.
abstract: Glycogenosis type IV is caused by a deficiency of glycogen branching enzyme (alpha-1,4 glucan 6-transglucosylase). Adult polyglucosan body disease (APBD) may represent a neuropathological hallmark of the adult form of this storage disease of the central nervous system. We analysed a case of a 45-year-old unconscious woman who died three days after admission to the hospital. Neuropathological examination revealed massive accumulation of polyglucosan bodies (PBs) in the cortex and white matter of the whole brain. PBs were located in the processes of neurons, astrocytes and microglial cells. The storage material in the cytoplasm of neurons and glial cells was visible as fine granules. Ultrastructurally, PBs consisted of non-membrane-bound deposits of branched and densely packed filaments, measuring about 7-10 nm in diameter, typical of polyglucosan bodies. APBD patients develop upper and lower neuron disease and dementia, probably secondary to the disruption of neuron and astrocyte functions.
authors.affiliation: Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02-957 Warsaw, Poland. bobrow@ipin.edu.pl
authors.forename: Teresa
authors.initials: T
authors.lastname: Wierzba-Bobrowicz
authors.forename: Eliza
authors.initials: E
authors.lastname: Lewandowska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Stepień
authors.forename: Joanna
authors.initials: J
authors.lastname: Modzelewska
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000648:ultrastructure*; D005260:Female; D005936:Glucans / Q000378:metabolism; D006011:Glycogen Storage Disease Type IV / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000378:metabolism / Q000648:ultrastructure; D008875:Middle Aged
chemical_list: D005936:Glucans; C083094:polyglucosan