Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome

Christopher J. Klein, Christopher J. Boes, John E. Chapin, Christopher D. Lynch, Norbert G. Campeau, P. James B. Dyck, Peter J. Dyck

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160lle) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.

Original languageEnglish (US)
Pages (from-to)323-328
Number of pages6
JournalMuscle and Nerve
Volume29
Issue number2
DOIs
StatePublished - Feb 1 2004

Keywords

  • Adult polyglucosan body disease
  • GBE
  • Glycogen branching enzyme deficiency
  • Myopathy
  • Neuropathy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Fingerprint Dive into the research topics of 'Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome'. Together they form a unique fingerprint.

  • Cite this