Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder [PDF]
Frontiers in Neurology, 2023 Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham +5 more
doaj +5 more sources
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls [PDF]
Frontiers in Genetics, 2023 Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Matthew M. Gayed +4 more
doaj +5 more sources
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown +14 more
doaj +6 more sources
A case of adult polyglucosan body disease. [PDF]
Yonsei Med J, 2007 Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and cognitive ...
Lee SY +5 more
europepmc +6 more sources
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7 [PDF]
Frontiers in GeneticsIntroductionAdult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene.
Juan Zhu +14 more
doaj +5 more sources
Characterization of cognitive impairment in adult polyglucosan body disease. [PDF]
J Neurol, 2022 AbstractAdult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy.
Zebhauser PT +7 more
europepmc +5 more sources
Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders [PDF]
Cells, 2023 Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric ...
Jordi Duran
doaj +2 more sources
Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease. [PDF]
J NeuroophthalmolBackground: Adult polyglucosan body disease (APBD) is caused by a deficiency in glycogen branching enzyme that leads to polyglucosan accumulation in multiple organs. It has a progressive clinical course with prominent neurologic manifestations. We aim to describe the neuro-ophthalmic manifestations of APBD.
Dugue AG +4 more
europepmc +3 more sources
Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling [PDF]
Animals, 2022 Lafora disease is an autosomal recessive glycogen-storage disorder resulting from an accumulation of toxic polyglucosan bodies (PGBs) in the central nervous system, which causes behavioral and neurologic symptoms in humans and other animals. In this case
Madhu Ravi +3 more
doaj +2 more sources
Spastic ataxia with sensory neuropathy sans cerebral leukodystrophy in probable adult polyglucosan body disease [PDF]
Annals of Indian Academy of Neurology, 2023 Rohan Mahale +7 more
doaj +2 more sources