Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Muscle Nerve
; 32(5): 675-81, 2005 Nov.
Article
en En
| MEDLINE
| ID: mdl-16007674
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Enfermedad del Almacenamiento de Glucógeno Tipo IV
/
Cuerpos de Inclusión
/
Enzima Ramificadora de 1,4-alfa-Glucano
/
Glucanos
Tipo de estudio:
Diagnostic_studies
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos