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
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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
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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
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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
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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
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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
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Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation [PDF]
NeurotherapeuticsLafora disease (LD) is a fatal teenage-onset neurodegenerative epilepsy caused by loss-of-function mutations of the genes encoding the laforin phosphatase-malin E3 ubiquitin ligase complex.
Esther O. Alao +11 more
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Mental deterioration in lafora's disease [PDF]
Arquivos de Neuro-Psiquiatria, 1990 Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration.
A. Cukiert +4 more
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A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy [PDF]
Türk Patoloji Dergisi, 2021 Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting.
Elife KIMILOĞLU +3 more
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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
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