Results 11 to 20 of about 845 (152)

Ketogenic diet reduces Lafora bodies in murine Lafora disease. [PDF]

Neurol Genet, 2020
Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycogen phosphatase laforin or EPM2B encoding the laforin-interacting ubiquitin E3 ligase malin. Concerted actions of glycogen synthase (GS) and branching enzyme generate normal short-branched soluble glycogen.
Israelian L, Wang P, Gabrielian S, Zhao X, Minassian BA.   +4 more
europepmc   +4 more sources

Lafora and Trétiakoff: the naming of the inclusion bodies discovered by Lewy [PDF]

Arquivos de Neuro-Psiquiatria, 2017
Fritz Heinrich Jakob Lewy described, for the first time, in 1912, novel peculiar inclusions in neurons of certain brain nuclei in patients with Paralysis agitans, and compared his finding to the amyloid bodies described by Lafora one year before. Gonzalo
Eliasz Engelhardt
doaj   +4 more sources

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants. [PDF]

Epilepsia Open
Abstract We 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 myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Muccioli L, Bisulli F, Minardi R, Valentino ML, De Simone M, Paroni RA, Cesnik E, Fallica E, Bonan L, Pizzi E, DEFEAT‐LD Study Group, Cantalupo G, Licchetta L.   +12 more
europepmc   +2 more sources

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease. [PDF]

Epilepsia
Abstract 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, Bellingacci L, Canonichesi J, Imperatore V, Taddei AA, Zafra-Puerta L, Iglesias-Cabeza N, Prontera P, Mancini A, Di Filippo M, Tozzi A, Martinello K, Barzasi M, Gardoni F, Sánchez MP, Serratosa JM, Parnetti L, Sciaccaluga M.   +17 more
europepmc   +2 more sources

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders

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   +1 more source

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related Disease. [PDF]

JIMD Rep
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Koch RL, Akman HO, Chown E, Goldman D, Levenson J, Lu Q, Michalovicz Gill LT, Morgan M, Orthmann-Murphy JL, Pires NT, Reef R, Saxe H, Singer-Berk M, Baxter S.   +13 more
europepmc   +2 more sources

Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin [PDF]

Journal of Biological Chemistry, 2010
Vincent S Tagliabracci, JOSÉ M Irimia, Peter J Roach   +2 more
exaly   +2 more sources

Lafora Body Epilepsy: A Challenging Diagnosis

Journal of the College of Physicians and Surgeons Pakistan, 2022
Lafora body disease (LBD) is a progressive myoclonic genetic epilepsy syndrome characterized by the presence of Lafora inclusion bodies within neurons and other cells. It is a complex neurodegenerative disease presenting in adolescence with seizures, myoclonus, and rapid cognitive decline.
Ali Zohair, Nomani, Haris Majid, Rajput, Hanna, Nomani   +2 more
openaire   +2 more sources

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy

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, Pelin AKBAŞ, Özgül ESEN ÖRE, Çağla TURAN   +3 more
doaj   +1 more source

Lafora disease: a case report

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, Leonore Zogaj, Abdurrahim Gerguri, Ramush Bejiqi, Ragip Ratkoceri, Arlinda Maloku, Aferdita Mustafa, Labinot Shahini, Jeton Maxharaj   +8 more
doaj   +1 more source