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

doi:10.1002/mus.10520

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 journal › Article › peer-review

42 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 language	English (US)
Pages (from-to)	323-328
Number of pages	6
Journal	Muscle and Nerve
Volume	29
Issue number	2
DOIs	https://doi.org/10.1002/mus.10520
State	Published - Feb 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)

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10.1002/mus.10520

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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.",

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

Abstract

Keywords

ASJC Scopus subject areas

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