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 +4 more sources
Advances in gene therapy for Lafora disease: Intravenous recombinant adeno‐associated virus‐mediated delivery of EPM2A and EPM2B genes [PDF]
Clinical and Translational MedicineBackground Lafora disease is a rare and fatal form of progressive myoclonus epilepsy that typically manifests in late childhood, presenting with seizures and progressive neurological decline.
Luis Zafra‐Puerta +8 more
doaj +3 more sources
The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants [PDF]
Epilepsia OpenWe report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive
Lorenzo Muccioli +12 more
doaj +3 more sources
Lafora Disease: A Case Report and Evolving Treatment Advancements [PDF]
Brain Sciences, 2023 Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence.
Carola Rita Ferrari Aggradi +13 more
doaj +2 more sources
Lafora disease: a case report [PDF]
Journal of Medical Case Reports, 2022 Background Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence.
Naim Zeka +8 more
doaj +2 more sources
Canine Lafora Disease: An Unstable Repeat Expansion Disorder [PDF]
Life, 2021 Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing ...
Thilo von Klopmann +11 more
doaj +2 more sources
Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease. [PDF]
EpilepsiaAbstract Background and Objective Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug‐resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG ...
Costa C +17 more
europepmc +2 more sources
Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel
Epilepsy and Behavior Case Reports, 2014 Lafora disease is a rare and fatal disease characterized by seizures, progressive cognitive and behavioral deterioration, as well as cerebellar dysfunction.
Maya Dirani +3 more
doaj +3 more sources
Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report
Kaohsiung Journal of Medical Sciences, 2009 We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng +5 more
doaj +3 more sources
Retinal alterations in patients with Lafora disease [PDF]
American Journal of Ophthalmology Case Reports, 2021 Purpose: Lafora disease is a genetic neurodegenerative metabolic disorder caused by insoluble polyglucosan aggregate accumulation throughout the central nervous system and body.
Heather Heitkotter +11 more
doaj +2 more sources