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Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
Muscle Nerve. 2008 Apr; 37(4):530-6.MN

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+Show Affiliations

Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy. massa@uniroma2.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17994551

Citation

Massa, Roberto, et al. "Adult Polyglucosan Body Disease: Proton Magnetic Resonance Spectroscopy of the Brain and Novel Mutation in the GBE1 Gene." Muscle & Nerve, vol. 37, no. 4, 2008, pp. 530-6.
Massa R, Bruno C, Martorana A, et al. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. 2008;37(4):530-6.
Massa, R., Bruno, C., Martorana, A., de Stefano, N., van Diggelen, O. P., & Federico, A. (2008). Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle & Nerve, 37(4), 530-6.
Massa R, et al. Adult Polyglucosan Body Disease: Proton Magnetic Resonance Spectroscopy of the Brain and Novel Mutation in the GBE1 Gene. Muscle Nerve. 2008;37(4):530-6. PubMed PMID: 17994551.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. AU - Massa,Roberto, AU - Bruno,Claudio, AU - Martorana,Alessandro, AU - de Stefano,Nicola, AU - van Diggelen,Otto P, AU - Federico,Antonio, PY - 2007/11/13/pubmed PY - 2008/5/23/medline PY - 2007/11/13/entrez SP - 530 EP - 6 JF - Muscle & nerve JO - Muscle Nerve VL - 37 IS - 4 N2 - 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. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/17994551/Adult_polyglucosan_body_disease:_proton_magnetic_resonance_spectroscopy_of_the_brain_and_novel_mutation_in_the_GBE1_gene_ L2 - https://doi.org/10.1002/mus.20916 DB - PRIME DP - Unbound Medicine ER -