[Adult polyglucosan antibody disease. Case report with predominant involvement of the central and peripheral nervous system and branching enzyme defect in leukocytes]

Nervenarzt. 1999 Aug;70(8):745-9. doi: 10.1007/s001150050505.
[Article in German]

Abstract

We describe a 46 year old patient with adult polyglucosan body disease (APBD). She presented clinically with late onset pyramidal tetraparesis, sensory motor polyneuropathy and micturition difficulties. Magnetic resonance imaging of the brain revealed extensive leucencephalopathy and diffuse atrophy. The diagnosis based on the demonstration of polyglucosan bodies in the sural nerve biopsy. In search of a possible metabolic defect, we evaluated glycogen metabolism in this patient and her clinically unaffected daughters. Branching enzyme activity in the patients leukocytes was between 20-30% of the lower limit of normal range, whereas their children displayed values of 80%, suggesting a possible autosomal recessive mode of transmission. Branching enzyme deficiency in APBD with predominantly attack of the central and peripheral nervous system was so far described in 3 Jewish patients.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / deficiency*
  • 1,4-alpha-Glucan Branching Enzyme / genetics
  • Adult
  • Biopsy
  • Brain / pathology
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / genetics*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Female
  • Genes, Recessive / genetics
  • Glycogen Storage Disease Type IV / diagnosis
  • Glycogen Storage Disease Type IV / genetics*
  • Humans
  • Leukocytes / enzymology*
  • Magnetic Resonance Imaging
  • Microbodies / pathology
  • Microscopy, Electron
  • Middle Aged
  • Neurologic Examination*
  • Sural Nerve / pathology

Substances

  • 1,4-alpha-Glucan Branching Enzyme