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Adult polyglucosan body disease: A case report of a manifesting heterozygote
Author(s) -
Ubogu Eroboghene E.,
Hong Stacey Tay Kiat,
Akman Hasan Orhan,
Dimauro Salvatore,
Katirji Bashar,
Preston David C.,
Shapiro Barbara E.
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20384
Subject(s) - compound heterozygosity , medicine , heterozygote advantage , pathology , disease , loss of heterozygosity , sural nerve , pathogenesis , etiology , sensory loss , mutation , biology , genetics , surgery , gene , genotype , allele
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. Muscle Nerve, 2005