Adult polyglucosan body disease

Case description of an expanding genetic and clinical syndrome

Christopher Jon 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 Citations (Scopus)

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 2004

Fingerprint

1,4-alpha-Glucan Branching Enzyme
Glycogen Storage Disease Type IV
Internal Capsule
Cerebellar Nuclei
Mutation
Olea
Mesencephalon
Atrophy
Magnetic Resonance Imaging
Biopsy
Muscles
Enzymes
Genes
Adult Form Polyglucosan Body Disease

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Adult polyglucosan body disease : Case description of an expanding genetic and clinical syndrome. / Klein, Christopher Jon; Boes, Christopher J.; Chapin, John E.; Lynch, Christopher D.; Campeau, Norbert G; Dyck, P. James B; Dyck, Peter J.

In: Muscle and Nerve, Vol. 29, No. 2, 02.2004, p. 323-328.

Research output: Contribution to journalArticle

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