title: Adult polyglucosan body disease: a case report of a manifesting heterozygote.
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: Neuromuscular Division, Department of Neurology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Ohio 44106-5098, USA.
authors: Eroboghene E
authors: EE
authors: Ubogu
authors: Stacey Tay Kiat
authors: ST
authors: Hong
authors: Hasan Orhan
authors: HO
authors: Akman
authors: Salvatore
authors: S
authors: Dimauro
authors: Bashar
authors: B
authors: Katirji
authors: David C
authors: DC
authors: Preston
authors: Barbara E
authors: BE
authors: Shapiro
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency* / Q000235:genetics; D000368:Aged; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D002893:Chromosomes, Human, Pair 3; D003937:Diagnosis, Differential; D005936:Glucans / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D002479:Inclusion Bodies; D007585:Jews; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D005936:Glucans; C083094:polyglucosan; D015061:1,4-alpha-Glucan Branching Enzyme