Results 41 to 50 of about 884 (171)
Cell Reports, 2019 Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan +12 more
doaj +1 more source
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora [PDF]
, 2007 5 páginas, 2 figuras -- PAGS nros. 1369-1373Background: Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes.
Berciano, Javier +9 more
core +2 more sources
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant
Annals of Clinical and Translational Neurology, 2019 Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of adult ...
Béryl Royer‐Bertrand +12 more
doaj +1 more source
Late-onset Tay-Sachs disease [PDF]
, 2017 We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt +18 more
core +1 more source
Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models [PDF]
Neurotherapeutics, 2021 SummaryMany adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency and specificity hurdles. We apply CRISPR/Cas9 genome editing in its simplest modality, namely inducing gene sequence disruption, to one adult and one ...
Emrah Gumusgoz +9 more
openaire +2 more sources
Journal of Lipid Research, 2017 Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez +10 more
doaj +1 more source
Corpora Amylacea of Brain Tissue from Neurodegenerative Diseases Are Stained with Specific Antifungal Antibodies [PDF]
, 2016 The origin and potential function of corpora amylacea (CA) remains largely unknown. Low numbers of CA are detected in the aging brain of normal individuals but they are abundant in the central nervous system of patients with neurodegenerative diseases ...
Alonso, R. +3 more
core +3 more sources
Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease [PDF]
, 2021 The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracellular glycogen aggregates, called Lafora bodies. Until recently, it was widely believed that brain Lafora bodies were present exclusively in neurons and ...
Duran, Jordi +8 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2018 Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima +7 more
doaj +1 more source
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease [PDF]
Canadian Journal of Anaesthesia, 1996 Adult polyglucosan body disease (APBD) is a rare neurological disorder of unknown cause characterized by four manifestations: upper motor neuron signs, peripheral neuropathy with motor and sensory loss, urinary incontinence, and dementia. The purpose of this report is to present a patient with APBD anaesthetized successfully with sevoflurane and ...
S, Inoue +4 more
openaire +2 more sources