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Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the <i>GBE1</i> gene

9 Nov 2007

Abstract excerpt

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...

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PMID: 17994551
DOI: 10.1002/mus.20916

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