Title: Acute but transient neurological deterioration revealing adult polyglucosan body disease
Authors: Billot, Ségolène ×
Hervé, Dominique
Akman, Hasan O
Froissart, Roseline
Baussan, Christiane
Claeys, Kristl
Piraud, Monique
Sedel, Frédéric
Mochel, Fanny
Laforêt, Pascal #
Issue Date: Jan-2013
Publisher: Elsevier Pub. Co.
Series Title: Journal of the Neurological Sciences vol:324 issue:1-2 pages:179-182
Article number: 10.1016/j.jns.2012.10.015
Abstract: 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 acute deterioration followed by an unexpected recovery. Enzymatic analysis displayed decreased GBE activity in leukocytes. Molecular analyses revealed that only one mutated allele was expressed, bearing a p.Arg515His mutation. This is the first observation reporting acute and reversible neurological symptoms in APBD. These findings emphasize the importance of searching GBE deficiency in patients presenting with a leukodystrophy and acute neurological symptoms mimicking a stroke, in the absence of cardiovascular risk factors.
ISSN: 0022-510X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
× corresponding author
# (joint) last author

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