Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Ann Neurol. 2000 Apr;47(4):536-40.


We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first identification of GBE mutations underlying adult polyglucosan body disease in a non-Ashkenazi family, and confirms that adult glycogen storage disease type IV can manifest clinically as adult polyglucosan body disease.

Publication types

  • Case Reports

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Glycogen Storage Disease Type IV / enzymology
  • Glycogen Storage Disease Type IV / genetics*
  • Glycogen Storage Disease Type IV / pathology
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Sural Nerve / pathology


  • 1,4-alpha-Glucan Branching Enzyme