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Muscle Nerve. 2004 Feb;29(2):323-8.

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

Author information

1
Department of Neurology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, Minnesota 55905, USA. klein.christopher@mayo.edu

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 (Val160Ile) 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.

PMID:
14755501
DOI:
10.1002/mus.10520
[Indexed for MEDLINE]

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