As to glycogen storage disease, NBs have been described only in one case of polyglucosan body myopathy with mutation in the Glycogenin-1 gene .
Monforte et al., "Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods," Journal of Neurology, vol.
To date, classical reviews of metabolic disorders did not include MPS type VII (Sly disease) in the group of rare conditions known as "Polyglucosan Body Disorders (PGBD)" .
Fetal and neonatally detected metabolic disorders of genetic basis with polyglucosan bodies (PGBs) are extremely rare and are nonreported in relation to CNS involvement.
Diagnosis is made by identification of Lafora bodies, which are polyglucosan inclusion bodies.
Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
Corpora amylacea and the family of polyglucosan diseases.
The carbohydrate binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
Adult polyglucosan body disease is a chronically progressive neurological disease first described in 1980. The disease is rare; a recent review listed only 25 cases. The disease is characterized by adult onset, sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and dementia.
Adult polyglucosan body disease is a clinicopathologic entity typically presenting in the fifth to seventh decades with peripheral neuropathy, upper motor neuron signs, neurogenic bladder, and dementia.
Typical polyglucosan bodies are present in the sweat gland lumina in Lafora's disease.
Monoclonal antibody against polyglucosan isolated from myocardium of a patient with Lafora disease.