Adult polyglucosan body disease: a postmortem correlation study

Neurology. 2003 Jul 22;61(2):263-5. doi: 10.1212/01.wnl.0000073144.96680.cb.

Abstract

Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / analysis
  • 1,4-alpha-Glucan Branching Enzyme / deficiency*
  • 1,4-alpha-Glucan Branching Enzyme / genetics
  • Amino Acid Substitution
  • Atrophy
  • Brain / enzymology
  • Brain / pathology
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Carbohydrate Metabolism, Inborn Errors / pathology*
  • Cardiomegaly / etiology
  • Cardiomegaly / metabolism
  • Cardiomegaly / pathology
  • Death, Sudden, Cardiac / etiology
  • Demyelinating Diseases / etiology
  • Demyelinating Diseases / metabolism
  • Demyelinating Diseases / pathology
  • Ethnicity / genetics
  • Female
  • Gene Expression Regulation, Enzymologic
  • Genes, Recessive
  • Glucans / metabolism*
  • Heart Failure / etiology
  • Heart Failure / pathology
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Myocardium / enzymology
  • Nerve Tissue Proteins / analysis
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Organ Specificity
  • Peripheral Nerves / enzymology
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics

Substances

  • Glucans
  • Nerve Tissue Proteins
  • RNA, Messenger
  • polyglucosan
  • 1,4-alpha-Glucan Branching Enzyme