Literature DB >> 6249438

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.

Y Robitaille, S Carpenter, G Karpati, S D DiMauro.   

Abstract

We have described 4 patients with progressive lower and upper motor neuron deficits, marked sensory loss in the legs, 'neurogenic bladder', and, in 2 of the 4, dementia. Autopsy of two revealed a profusion of microscopic bodies resembling corpora amylacea or Lafora bodies, but restricted to processes of neurons and astrocytes. Similar (but especially large) bodies were seen within axons of sural nerves taken at biopsy from the other two patients. A general term--'polyglucosan body'--is introduced to refer to these structures in all the circumstances in which they may occur, such as in Lafora's disease, in a syndrome of longstanding double athetosis, in some cases of amyotrophic lateral sclerosis, in type IV glycogenosis, in diabetic rats, and in the normal course of ageing. Except in type IV glycogenosis, the causes for accumulation of polyglucosan bodies are unknown. They may damage tissue by more than one mechanism--probably by impeding axonal flow and impairing perivascular diffusion of metabolites.

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Year:  1980        PMID: 6249438     DOI: 10.1093/brain/103.2.315

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


  68 in total

1.  Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

Authors:  Erica Tiberia; Julie Turnbull; Tony Wang; Alessandra Ruggieri; Xiao-Chu Zhao; Nela Pencea; Johan Israelian; Yin Wang; Cameron A Ackerley; Peixiang Wang; Yan Liu; Berge A Minassian
Journal:  J Biol Chem       Date:  2012-06-05       Impact factor: 5.157

2.  Familial encephalopathy with neuroserpin inclusion bodies.

Authors:  R L Davis; P D Holohan; A E Shrimpton; A H Tatum; J Daucher; G H Collins; R Todd; C Bradshaw; P Kent; D Feiglin; A Rosenbaum; M S Yerby; C M Shaw; F Lacbawan; D A Lawrence
Journal:  Am J Pathol       Date:  1999-12       Impact factor: 4.307

3.  Ubiquitin is a component of polypeptides purified from corpora amylacea of aged human brain.

Authors:  S Cissé; G Lacoste-Royal; J Laperrière; T Cabana; D Gauvreau
Journal:  Neurochem Res       Date:  1991-04       Impact factor: 3.996

4.  A case of adult polyglucosan body disease.

Authors:  Seung-Yeob Lee; Jae-Hyeon Park; So Hun Kim; Tai-Seung Kim; Won-Joo Kim; Young-Chul Choi
Journal:  Yonsei Med J       Date:  2007-08-31       Impact factor: 2.759

Review 5.  Update on polyglucosan storage diseases.

Authors:  Giovanna Cenacchi; V Papa; R Costa; V Pegoraro; R Marozzo; M Fanin; C Angelini
Journal:  Virchows Arch       Date:  2019-07-30       Impact factor: 4.064

6.  Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Authors:  H Orhan Akman; Yavuz Aykit; Ozge Ceren Amuk; Edoardo Malfatti; Norma B Romero; Maria Antonietta Maioli; Rachele Piras; Salvatore DiMauro; Gianni Marrosu
Journal:  Neuromuscul Disord       Date:  2015-11-10       Impact factor: 4.296

7.  Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Authors:  Fanny Mochel; Raphael Schiffmann; Marjan E Steenweg; Hasan O Akman; Mary Wallace; Frédéric Sedel; Pascal Laforêt; Richard Levy; J Michael Powers; Sophie Demeret; Thierry Maisonobe; Roseline Froissart; Bruno Barcelos Da Nobrega; Brent L Fogel; Marvin R Natowicz; Catherine Lubetzki; Alexandra Durr; Alexis Brice; Hanna Rosenmann; Varda Barash; Or Kakhlon; J Moshe Gomori; Marjo S van der Knaap; Alexander Lossos
Journal:  Ann Neurol       Date:  2012-09       Impact factor: 10.422

8.  A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Authors:  H Orhan Akman; Valentina Emmanuele; Yasemin Gülcan Kurt; Bülent Kurt; Tatiana Sheiko; Salvatore DiMauro; William J Craigen
Journal:  Hum Mol Genet       Date:  2015-09-18       Impact factor: 6.150

9.  Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Authors:  J M Schröder; R May; Y S Shin; M Sigmund; S Nase-Hüppmeier
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

10.  Immunochemical identification of ubiquitin and heat-shock proteins in corpora amylacea from normal aged and Alzheimer's disease brains.

Authors:  S Cissé; G Perry; G Lacoste-Royal; T Cabana; D Gauvreau
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

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