Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

doi:10.1002/ana.23598

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Article

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Annals of neurology - 1 Sept 2012

Mochel Fanny, Schiffmann Raphael, Steenweg Marjan E, Akman Hasan O, Wallace Mary, Sedel Frédéric, Laforêt Pascal, Levy Richard, Powers J Michael, Demeret Sophie, Maisonobe Thierry, Froissart Roseline, Da Nobrega Bruno Barcelos, Fogel Brent L, Natowicz Marvin R, Lubetzki Catherine, Durr Alexandra, Brice Alexis, Rosenmann Hanna, Barash Varda, Kakhlon Or, Gomori J Moshe, van der Knaap Marjo S, Lossos Alexander

Abstract excerpt

OBJECTIVE: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic...

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Identifiers

PMID: 23034915
DOI: 10.1002/ana.23598
PMCID: PMC4329926

Genes

GBE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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