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Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Muscle Nerve 2005; 32(5):675-81MN

Abstract

A 62-year-old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6 years. Neurologic examination revealed upper and lower motor neuron dysfunction in the lower extremities, with distal sensory loss. Electrodiagnostic studies, magnetic resonance imaging of the brain, and sural nerve biopsy were consistent with adult polyglucosan body disease. Biochemical and genetic analyses demonstrated reduced glycogen brancher enzyme levels associated with a heterozygous point mutation (Tyr329Ser or Y329S) in the glycogen brancher enzyme gene on chromosome 3. Mutational heterozygosity in the glycogen brancher enzyme gene has not been previously reported as a cause for this rare disease. A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented.

Authors+Show Affiliations

Neuromuscular Division, Department of Neurology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Ohio 44106-5098, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16007674

Citation

Ubogu, Eroboghene E., et al. "Adult Polyglucosan Body Disease: a Case Report of a Manifesting Heterozygote." Muscle & Nerve, vol. 32, no. 5, 2005, pp. 675-81.
Ubogu EE, Hong ST, Akman HO, et al. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve. 2005;32(5):675-81.
Ubogu, E. E., Hong, S. T., Akman, H. O., Dimauro, S., Katirji, B., Preston, D. C., & Shapiro, B. E. (2005). Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle & Nerve, 32(5), pp. 675-81.
Ubogu EE, et al. Adult Polyglucosan Body Disease: a Case Report of a Manifesting Heterozygote. Muscle Nerve. 2005;32(5):675-81. PubMed PMID: 16007674.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult polyglucosan body disease: a case report of a manifesting heterozygote. AU - Ubogu,Eroboghene E, AU - Hong,Stacey Tay Kiat, AU - Akman,Hasan Orhan, AU - Dimauro,Salvatore, AU - Katirji,Bashar, AU - Preston,David C, AU - Shapiro,Barbara E, PY - 2005/7/12/pubmed PY - 2005/12/13/medline PY - 2005/7/12/entrez SP - 675 EP - 81 JF - Muscle & nerve JO - Muscle Nerve VL - 32 IS - 5 N2 - A 62-year-old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6 years. Neurologic examination revealed upper and lower motor neuron dysfunction in the lower extremities, with distal sensory loss. Electrodiagnostic studies, magnetic resonance imaging of the brain, and sural nerve biopsy were consistent with adult polyglucosan body disease. Biochemical and genetic analyses demonstrated reduced glycogen brancher enzyme levels associated with a heterozygous point mutation (Tyr329Ser or Y329S) in the glycogen brancher enzyme gene on chromosome 3. Mutational heterozygosity in the glycogen brancher enzyme gene has not been previously reported as a cause for this rare disease. A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/16007674/Adult_polyglucosan_body_disease:_a_case_report_of_a_manifesting_heterozygote_ L2 - https://doi.org/10.1002/mus.20384 DB - PRIME DP - Unbound Medicine ER -