title: Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
abstract: BACKGROUND
  Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies show these inclusions in intramuscular nerve branches. It has not been established whether the presence of multiple polyglucosan bodies in intramuscular peripheral nerve branches could or should suggest testing for APBD.
  
  
  METHODS
  Fifteen muscle biopsies from adults between the ages of 36 and 84 years, all showing polyglucosan bodies in intramuscular peripheral nerve twigs, were tested by sequencing of the GBE1 gene.
  
  
  RESULTS
  In 4 patients, testing identified heterozygous missense mutations not previously described. No homozygous or compound heterozygous mutations were identified.
  
  
  CONCLUSIONS
  The presence of polyglucosan bodies in intramuscular nerve twigs by itself, even if they are multiple, is not an indication of APBD. Further testing may only be indicated in patients with clinical disease manifestations.
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Larissa V
authors.initials: LV
authors.lastname: Furtado
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Sabah
authors.initials: S
authors.lastname: Kadri
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Michelle N
authors.initials: MN
authors.lastname: Wurst
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Bradley C
authors.initials: BC
authors.lastname: Long
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Jeremy P
authors.initials: JP
authors.lastname: Segal
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Room E-608, MC6101, 5841 South Maryland Avenue, Chicago, Illinois, 60637, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Pytel
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D025221:Phosphofructokinases / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D006004:Glycogen Debranching Enzyme System; C577876:GBE1 protein, human; D025221:Phosphofructokinases
keywords: GBE1; adult polyglucosan body disease; glycogen; muscle biopsy; peripheral nerve; storage disease