title: Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.
abstract: 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.
  
  
  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 in several peripheral tissues, including the diaphragm, and nervous tissues such as peripheral nerves, cerebral white matter, basal ganglia, hippocampus, brainstem and cerebellum. Immunohistochemistry and electron microscopy of the brain revealed an exclusive astrocytic localization of the PB. The diagnosis of adult polyglucosan body disease (APBD) was confirmed by enzymatic and molecular studies.
  
  
  CONCLUSIONS
  Storage of abnormal glycogen in astrocytes is sufficient to cause the leukodystrophy of APBD. Since brain glycogen is almost exclusively metabolized in astrocytes, this observation sheds light on the pathophysiology of APBD. In addition, this is the first report of an APBD patient presenting with a subacute diaphragmatic failure.
authors.affiliation: AP-HP, Department of Neuropathology, Hospital La Salpêtrière, Paris, France.
authors.forename: Linda
authors.initials: L
authors.lastname: Dainese
authors.forename: Marie-Lorraine
authors.initials: ML
authors.lastname: Monin
authors.forename: Sophie
authors.initials: S
authors.lastname: Demeret
authors.forename: Guy
authors.initials: G
authors.lastname: Brochier
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.forename: Anne
authors.initials: A
authors.lastname: Spraul
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Danielle
authors.initials: D
authors.lastname: Seilhean
authors.forename: Fanny
authors.initials: F
authors.lastname: Mochel
mesh_terms: D001253:Astrocytes / Q000378:metabolism*; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005936:Glucans / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000235:genetics; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D005936:Glucans; D006004:Glycogen Debranching Enzyme System; D006003:Glycogen; C083094:polyglucosan; C577876:GBE1 protein, human