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Article

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

Journal of the neurological sciences - 15 Jan 2013

Billot Ségolène, Hervé Dominique, Akman Hasan O, Froissart Roseline, Baussan Christiane, Claeys Kristl G, Piraud Monique, Sedel Frédéric, Mochel Fanny, Laforêt Pascal

Abstract excerpt

Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the cases, cognitive decline. APBD is characterized by a recognizable leukodystrophy on brain MRI. We report here a novel presentation of this disease in a 35-year old woman who presented with an...

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PMID: 23146612
DOI: 10.1016/j.jns.2012.10.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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