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https://www.readbyqxmd.com/read/28181916/4-phenylbutyric-acid-and-metformin-decrease-sensitivity-to-pentylenetetrazol-induced-seizures-in-a-malin-knockout-model-of-lafora-disease
#1
Gentzane Sánchez-Elexpuru, José M Serratosa, Pascual Sanz, Marina P Sánchez
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ)...
February 8, 2017: Neuroreport
https://www.readbyqxmd.com/read/28131202/clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan
#2
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28098937/sodium-selenate-treatment-improves-symptoms-and-seizure-susceptibility-in-a-malin-deficient-mouse-model-of-lafora-disease
#3
Gentzane Sánchez-Elexpuru, José M Serratosa, Marina P Sánchez
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a(-/-) and Epm2b(-/-) mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28097224/everolimus-does-not-prevent-lafora-body-formation-in-murine-lafora-disease
#4
Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A Minassian
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#5
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28063983/loss-of-laforin-or-malin-results-in-increased-drp1-level-and-concomitant-mitochondrial-fragmentation-in-lafora-disease-mouse-models
#6
Mamta Upadhyay, Saloni Agarwal, Pratibha Bhadauriya, Subramaniam Ganesh
Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria. A hallmark of LD is the presence of abnormal glycogen inclusions called Lafora bodies in the affected tissues including the neurons. LD can be caused by defects either in the laforin phosphatase coded by the EPM2A gene or in the malin E3 ubiquitin ligase coded by the NHLRC1 gene. The mouse models of LD, created by the targeted disruption of the LD genes, display several neurodegenerative changes...
January 4, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27975203/loss-of-malin-but-not-laforin-results-in-compromised-autophagic-flux-and-proteasomal-dysfunction-in-cells-exposed-to-heat-shock
#7
Navodita Jain, Anupama Rai, Rohit Mishra, Subramaniam Ganesh
Heat stress to a cell leads to the activation of heat shock response, which is required for the management of misfolded and unfolded proteins. Macroautophagy and proteasome-mediated degradation are the two cellular processes that degrade polyubiquitinated, misfolded proteins. Contrasting pieces of evidence exist on the effect of heat stress on the activation of the above-mentioned degradative pathways. Laforin phosphatase and malin E3 ubiquitin ligase, the two proteins defective in Lafora neurodegenerative disorder, are involved in cellular stress response pathways and are required for the activation of heat shock transcription factor - the heat shock factor 1 (HSF1) - and, consequently, for cellular protection under heat shock...
December 14, 2016: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/27851488/1853-triple-bromide-therapy-in-a-case-of-lafora-disease
#8
Katelin Kimler, Pooja Shah, Shira Gertz, Mark Siegel, Eric Segal
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27747878/nhlrc1-repeat-expansion-in-two-beagles-with-lafora-disease
#9
I Hajek, F Kettner, V Simerdova, C Rusbridge, P Wang, B A Minassian, V Palus
Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene...
November 2016: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/27727845/lafora-body-disease
#10
P Sadhasivam, C Ganesan, Vetrivel, Hema
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27702709/lafora-disease
#11
Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A Ackerley, Berge A Minassian
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen. Polyglucosans, or Lafora bodies (LB) are typically found in the brain, periportal hepatocytes of the liver, skeletal and cardiac myocytes, and in the eccrine duct and apocrine myoepithelial cells of sweat glands...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27632409/progressive-myoclonus-epilepsy-in-congenital-generalized-lipodystrophy-type-2-report-of-3-cases-and-literature-review
#12
Roberta Opri, Gian Maria Fabrizi, Gaetano Cantalupo, Moreno Ferrarini, Alessandro Simonati, Bernardo Dalla Bernardina, Francesca Darra
PURPOSE: A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. METHODS: The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. The molecular analysis of BSCL2, Laforin and Malin genes was performed to patients and/or their parents by Denaturing High Performance Liquid Chromatography and automated nucleotide sequencing...
November 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27629998/myoclonus-and-seizures-in-progressive-myoclonus-epilepsies-pharmacology-and-therapeutic-trials
#13
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Eva Andermann, Reetta Kälviäinen, Pierre Genton
Generalized motor seizures, usually tonic-clonic, tonic-vibratory, myoclonic or clonic, and stimulus-sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27574708/late-onset-lafora-disease-with-prominent-parkinsonism-due-to-a-rare-mutation-in-epm2a
#14
David S Lynch, Nicholas W Wood, Henry Houlden
Lafora disease (LD) is an autosomal recessive form of progressive myoclonic epilepsy that is caused by mutations in EPM2A, encoding laforin, and NHLRC1 (EPM2B), encoding malin.(1) LD is classically described with onset in early teenage years. Patients develop myoclonus, epilepsy, visual hallucinations, and psychosis. Dementia is a prominent feature and often occurs in the late teenage years. LD typically progresses quickly, and patients become bedridden and dependent within 10 years of symptom onset, with life expectancy in the early 20s...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27514803/assessing-the-biological-activity-of-the-glucan-phosphatase-laforin
#15
Carlos Romá-Mateo, Madushi Raththagala, Mathew S Gentry, Pascual Sanz
Glucan phosphatases are a recently discovered family of enzymes that dephosphorylate either starch or glycogen and are essential for proper starch metabolism in plants and glycogen metabolism in humans. Mutations in the gene encoding the only human glucan phosphatase, laforin, result in the fatal, neurodegenerative, epilepsy known as Lafora disease. Here, we describe phosphatase assays to assess both generic laforin phosphatase activity and laforin's unique glycogen phosphatase activity.
2016: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27459034/efficacy-and-tolerability-of-perampanel-in-ten-patients-with-lafora-disease
#16
Danielle Goldsmith, Berge A Minassian
Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. Recently, two single-case studies reported drastic reductions in seizures and myoclonus with the AMPA antagonist perampanel and improved activities of daily living. We proceeded to study the effect of perampanel on 10 patients with genetically confirmed LD with disease duration ranging from 2 to 27years. Open-label perampanel was added to ongoing medications to a mean dose of 6.7mg/day. Seizures, myoclonus, functional disability, and cognition scores were measured for the third and ninth months following initiation and compared with those of the month prior to the start of therapy...
September 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27402852/insights-into-brain-glycogen-metabolism-the-structure-of-human-brain-glycogen-phosphorylase
#17
Cécile Mathieu, Ines Li de la Sierra-Gallay, Romain Duval, Ximing Xu, Angélique Cocaign, Thibaut Léger, Gary Woffendin, Jean-Michel Camadro, Catherine Etchebest, Ahmed Haouz, Jean-Marie Dupret, Fernando Rodrigues-Lima
Brain glycogen metabolism plays a critical role in major brain functions such as learning or memory consolidation. However, alteration of glycogen metabolism and glycogen accumulation in the brain contributes to neurodegeneration as observed in Lafora disease. Glycogen phosphorylase (GP), a key enzyme in glycogen metabolism, catalyzes the rate-limiting step of glycogen mobilization. Moreover, the allosteric regulation of the three GP isozymes (muscle, liver, and brain) by metabolites and phosphorylation, in response to hormonal signaling, fine-tunes glycogenolysis to fulfill energetic and metabolic requirements...
August 26, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27293346/periodic-electroencephalogram-discharges-in-a-case-of-lafora-body-disease-an-unusual-finding
#18
Rajendra Singh Jain, Arti Gupta, Pankaj Kumar Gupta, Rakesh Agrawal
Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells. Electroencephalogram (EEG) findings in LBD may include multiple spikes and wave discharges, photosensitivity, multifocal epileptiform discharges, and progressive slowing in background activity. Periodicity in epileptiform discharges has not been frequently depicted in LBD...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27194917/genetics-of-lafora-progressive-myoclonic-epilepsy-current-perspectives
#19
REVIEW
Miljana Kecmanović, Milica Keckarević-Marković, Dušan Keckarević, Galina Stevanović, Nebojša Jović, Stanka Romac
Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long, linear, poorly branched, hyperphosphorylated, insoluble form of glycogen. Loss-of-function mutations either in the EPM2A or in the NHLRC1 gene lead to polyglucosan formation. One hypothesis on LB formation is based on findings that laforin-malin complex downregulates glycogen synthase (GS) through malin-mediated ubiquitination, and the other one is based on findings that laforin dephosphorylates glycogen...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27164451/retinitis-pigmentosa-in-lafora-disease-expanding-findings-of-progressive-myoclonic-epilepsy
#20
Stirling Carpenter, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
April 19, 2016: Neurology
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