More rarely, PGBs have been also reported in pathological disorders with CNS involvement in adult patients [9, 13, 14], namely, in ALS-like athetosis and Adult Polyglucosan Body Disease (APGBD) [5, 9, 13, 14].
Abbreviations CMV: Cytomegalovirus CNS: Central nervous system CP: Cortical plate, cerebral Hb: Hemoglobin HE: Hematoxylin-Eosin (staining) HF: Hydrops fetalis LSD: Lysosomal storage diseases MPS: Mucopolysaccharidosis NIHF: Nonimmune hydrops fetalis PAS: Periodic Acid-Schiff (staining) PAS-D: Periodic Acid-Schiff-diastase/amylase (staining) PCR: Polymerase chain reaction PG: Polyglucosans PGB: Polyglucosan bodies PGBD: Polyglucosan Body Disease(s)/Polyglucosan Body Disorder(s) APGBD: Adult Polyglucosan Body Disease WM: White matter, cerebral.
Glibert, "Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology," Alzheimer Disease and Associated Disorders, vol.
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Shanske et al., "Glycogen branching enzyme deficiency in adult polyglucosan body disease," Annals of Neurology, vol.
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.
Busard and coworkers investigated the value of an axillary skin biopsy for the diagnosis of adult polyglucosan body disease in a 65-year-old woman in whom the diagnosis had been established by sural nerve biopsy.
Polyglucosan bodies in endothelial cells of the papillary dermis were not seen in the case reported by Busard and colleagues, but they have been described around endoneurial blood vessels and in perivascular macrophages in sural nerve biopsies. In contrast to adult polyglucosan body disease, in which inclusions are most prominent in myoepithelial cells of the apocrine secretory coil, Lafora disease shows inclusions in apocrine and eccrine duct cells.
The pathogenesis of the adult polyglucosan body disease appears to be heterogeneous.
In summary, adult polyglucosan body disease should be suspected in patients with a late-onset progressive disorder of the peripheral and central nervous system, especially when upper motor neuron signs, dementia, or bladder impairment is present.