Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
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.
Massa
Roberto
R
Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy. massa@uniroma2.it
Bruno
Claudio
C
Martorana
Alessandro
A
de Stefano
Nicola
N
van Diggelen
Otto P
OP
Federico
Antonio
A
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
D005936:Glucans; D011522:Protons; C083094:polyglucosan; D015061:1,4-alpha-Glucan Branching Enzyme