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Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease

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...

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Autores principales: Dainese, Linda, Monin, Marie-Lorraine, Demeret, Sophie, Brochier, Guy, Froissart, Roseline, Spraul, Anne, Schiffmann, Raphael, Seilhean, Danielle, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier B.V. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7126849/
https://www.ncbi.nlm.nih.gov/pubmed/23266647
http://dx.doi.org/10.1016/j.gene.2012.12.065
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author Dainese, Linda
Monin, Marie-Lorraine
Demeret, Sophie
Brochier, Guy
Froissart, Roseline
Spraul, Anne
Schiffmann, Raphael
Seilhean, Danielle
Mochel, Fanny
author_facet Dainese, Linda
Monin, Marie-Lorraine
Demeret, Sophie
Brochier, Guy
Froissart, Roseline
Spraul, Anne
Schiffmann, Raphael
Seilhean, Danielle
Mochel, Fanny
author_sort Dainese, Linda
collection PubMed
description 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 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. CONCLUSION: 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.
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spelling pubmed-71268492020-04-08 Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease Dainese, Linda Monin, Marie-Lorraine Demeret, Sophie Brochier, Guy Froissart, Roseline Spraul, Anne Schiffmann, Raphael Seilhean, Danielle Mochel, Fanny Gene Article 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 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. CONCLUSION: 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. Elsevier B.V. 2013-02-25 2012-12-20 /pmc/articles/PMC7126849/ /pubmed/23266647 http://dx.doi.org/10.1016/j.gene.2012.12.065 Text en Copyright © 2012 Elsevier B.V. All rights reserved. Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
spellingShingle Article
Dainese, Linda
Monin, Marie-Lorraine
Demeret, Sophie
Brochier, Guy
Froissart, Roseline
Spraul, Anne
Schiffmann, Raphael
Seilhean, Danielle
Mochel, Fanny
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title_full Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title_fullStr Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title_full_unstemmed Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title_short Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
title_sort abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7126849/
https://www.ncbi.nlm.nih.gov/pubmed/23266647
http://dx.doi.org/10.1016/j.gene.2012.12.065
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