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Lafora

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https://www.readbyqxmd.com/read/27851488/1853-triple-bromide-therapy-in-a-case-of-lafora-disease
#1
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
#2
I Hajek, F Kettner, V Simerdova, C Rusbridge, P Wang, V Palus, B A Minassian
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...
October 16, 2016: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/27727845/lafora-body-disease
#3
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
#4
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
#5
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...
September 5, 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27107699/foxo3a-mediated-autophagy-is-down-regulated-in-the-laforin-deficient-mice-an-animal-model-for-lafora-progressive-myoclonus-epilepsy
#14
Navodita Jain, Rohit Mishra, Subramaniam Ganesh
Lafora disease (LD) is an autosomal recessive disorder characterized by epileptic seizures, neurodegeneration and accumulation of polyglucosan bodies (Lafora bodies), arising due to defects in either the laforin protein phosphatase or the malin ubiquitin ligase. Among the multiple cellular pathways affected in LD, the specific cause of the autophagy blockade remains unknown. The autophagy impairment however is known to precede the formation of Lafora bodies in the LD mice models. We show here the involvement of a transcription factor, FoxO3a, to be a possible cause for the autophagic defect in cellular and animal models of LD...
May 27, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27041370/inflammation-in-lafora-disease-evolution-with-disease-progression-in-laforin-and-malin-knock-out-mouse-models
#15
Irene López-González, Rosa Viana, Pascual Sanz, Isidre Ferrer
Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal rare autosomal recessive neurodegenerative disorder characterized by the accumulation of insoluble ubiquitinated polyglucosan inclusions in the cytoplasm of neurons, which is most commonly associated with mutations in two genes: EPM2A, encoding the glucan phosphatase laforin, and EPM2B, encoding the E3-ubiquitin ligase malin. The present study analyzes possible inflammatory responses in the mouse lines Epm2a (-/-) (laforin knock-out) and Epm2b (-/-) (malin knock-out) with disease progression...
April 4, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27036853/incorporation-of-phosphate-into-glycogen-by-glycogen-synthase
#16
Christopher J Contreras, Dyann M Segvich, Krishna Mahalingan, Vimbai M Chikwana, Terence L Kirley, Thomas D Hurley, Anna A DePaoli-Roach, Peter J Roach
The storage polymer glycogen normally contains small amounts of covalently attached phosphate as phosphomonoesters at C2, C3 and C6 atoms of glucose residues. In the absence of the laforin phosphatase, as in the rare childhood epilepsy Lafora disease, the phosphorylation level is elevated and is associated with abnormal glycogen structure that contributes to the pathology. Laforin therefore likely functions in vivo as a glycogen phosphatase. The mechanism of glycogen phosphorylation is less well-understood...
May 1, 2016: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/26976331/homeostasis-of-the-astrocytic-glutamate-transporter-glt-1-is-altered-in-mouse-models-of-lafora-disease
#17
Carmen Muñoz-Ballester, Arnaud Berthier, Rosa Viana, Pascual Sanz
Lafora disease (LD, OMIM 254780) is a fatal rare disorder characterized by epilepsy and neurodegeneration. Although in recent years a lot of information has been gained on the molecular basis of the neurodegeneration that accompanies LD, the molecular basis of epilepsy is poorly understood. Here, we present evidence indicating that the homeostasis of glutamate transporter GLT-1 (EAAT2) is compromised in mouse models of LD. Our results indicate that primary astrocytes from LD mice have reduced capacity of glutamate transport, probably because they present a reduction in the levels of the glutamate transporter at the plasma membrane...
June 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26970374/periodic-acid-schiff-granules-in-the-brain-of-aged-mice-from-amyloid-aggregates-to-degenerative-structures-containing-neo-epitopes
#18
REVIEW
Gemma Manich, Itsaso Cabezón, Elisabet Augé, Carme Pelegrí, Jordi Vilaplana
Brain ageing in mice leads to the progressive appearance and expansion of degenerative granular structures frequently referred as "PAS granules" because of their positive staining with periodic acid-Schiff (PAS). PAS granules are present mainly in the hippocampus, although they have also been described in other brain areas such as piriform and entorhinal cortices, and have been observed in other mammals than mice, like rats and monkeys. PAS granules have been identified as a wide range of brain deposits related to numerous neurodegenerative diseases, such as amyloid deposits, neurofibrillary tangles, Lafora bodies, corpora amylacea and polyglucosan bodies, and these identifications have generated controversy and particular theories about them...
May 2016: Ageing Research Reviews
https://www.readbyqxmd.com/read/26648032/interdependence-of-laforin-and-malin-proteins-for-their-stability-and-functions-could-underlie-the-molecular-basis-of-locus-heterogeneity-in-lafora-disease
#19
Shuchi Mittal, Mamta Upadhyay, Pankaj Kumar Singh, Rashmi Parihar, Subramaniam Ganesh
Lafora disease (LD), an autosomal recessive and fatal form of neurodegenerative disorder, is characterized by the presence of polyglucosan inclusions in the affected tissues including the brain. LD can be caused by defects either in the EPM2A gene coding for the laforin protein phosphatase or the NHLRC1 gene coding for the malin ubiquitin ligase. Since the clinical symptoms of LD patients representing the two genetic groups are very similar and since malin is known to interact with laforin, we were curious to examine the possibility that the two proteins regulate each other's function...
December 2015: Journal of Biosciences
https://www.readbyqxmd.com/read/26578817/biophysical-characterization-of-laforin-carbohydrate-interaction
#20
David M Dias, Joana Furtado, Emeric Wasielewski, Rui Cruz, Bernard Costello, Lindsay Cole, Tiago Q Faria, Philipp Baaske, Rui M M Brito, Alessio Ciulli, Isaura Simões, Sandra Macedo-Ribeiro, Carlos Faro, Carlos F G C Geraldes, Pedro Castanheira
Laforin is a human dual-specificity phosphatase (DSP) involved in glycogen metabolism regulation containing a carbohydrate-binding module (CBM). Mutations in the gene coding for laforin are responsible for the development of Lafora disease, a progressive fatal myoclonus epilepsy with early onset, characterized by the intracellular deposition of abnormally branched, hyperphosphorylated insoluble glycogen-like polymers, called Lafora bodies. Despite the known importance of the CBM domain of laforin in the regulation of glycogen metabolism, the molecular mechanism of laforin-glycogen interaction is still poorly understood...
February 1, 2016: Biochemical Journal
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