title: Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
abstract: Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems. A common missense mutation in the glycogen branching enzyme (GBE1) gene has been identified in Ashkenazi patients with APBD. We report on a non-Jewish patient with APBD on whom we performed proton magnetic resonance spectroscopic imaging of the brain. GBE activity in fibroblasts was markedly reduced, and a novel heterozygous mutation was identified in the GBE1 gene. Our findings widen the spectrum of APBD genotypes, underline the importance of performing GBE analysis in all APBD patients, and suggest that brain white matter degeneration in APBD may result from tissue damage involving axons and myelin.
authors.affiliation: Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy. massa@uniroma2.it
authors.forename: Roberto
authors.initials: R
authors.lastname: Massa
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Alessandro
authors.initials: A
authors.lastname: Martorana
authors.forename: Nicola
authors.initials: N
authors.lastname: de Stefano
authors.forename: Otto P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology; D004576:Electromyography; D005192:Family Health; D005260:Female; D005936:Glucans / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D020125:Mutation, Missense; D009422:Nervous System Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D011522:Protons
chemical_list: D005936:Glucans; D011522:Protons; C083094:polyglucosan; D015061:1,4-alpha-Glucan Branching Enzyme