Article
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.
Gene - 25 Feb 2013
Dainese Linda, Monin Marie-Lorraine, Demeret Sophie, Brochier Guy, Froissart Roseline, Spraul Anne, Schiffmann Raphael, Seilhean Danielle, Mochel Fanny
Abstract excerpt
BACKGROUND: A 45-year old woman of Cambodian ethnic background presented with fatal respiratory failure due to a severe diaphragmatic dysfunction. Two years before, she had developed early onset of urinary symptoms. METHODS AND RESULTS: Neuroimaging showed atrophy of the spine and medulla as well as a leukodystrophy affecting both supra- and infra-tentorial regions. At autopsy, polyglucosan bodies (PB) were seen...
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