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dc.contributor.authorBurgos, Daniel F
dc.contributor.authorCusso, Lorena 
dc.contributor.authorSanchez-Elexpuru, Gentzane 
dc.contributor.authorCalle, Daniel
dc.contributor.authorPerpinya, Max Bautista
dc.contributor.authorDesco, Manuel 
dc.contributor.authorSerratosa, Jose M 
dc.contributor.authorSanchez, Marina P
dc.identifier.citationInt J Mol Sci. 2020; 21(20):7771es_ES
dc.description.abstractMutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging studies of patients with Lafora disease have shown different degrees of brain atrophy, decreased glucose brain uptake and alterations on different brain metabolites mainly in the frontal cortex, basal ganglia and cerebellum. Mice deficient for laforin and malin present many features similar to those observed in patients, including cognitive, motor, histological and epileptic hallmarks. We describe the neuroimaging features found in two mouse models of Lafora disease. We found altered volumetric values in the cerebral cortex, hippocampus, basal ganglia and cerebellum using magnetic resonance imaging (MRI). Positron emission tomography (PET) of the cerebral cortex, hippocampus and cerebellum of Epm2a-/- mice revealed abnormal glucose uptake, although no alterations in Epm2b-/- mice were observed. Magnetic resonance spectroscopy (MRS) revealed significant changes in the concentration of several brain metabolites, including N-acetylaspartate (NAA), in agreement with previously described findings in patients. These data may provide new insights into disease mechanisms that may be of value for developing new biomarkers for diagnosis, prevention and treatment of Lafora disease using animal models.es_ES
dc.description.sponsorshipThis work has been supported by grants from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (P01NS097197), the Spanish Ministry of Economy (SAF2014-59594-R awarded to José M. Serratosa and Rti2018-095784b-100SAF awarded to José M. Serratosa and Marina P. Sánchez) and the Community of Madrid (S2017/BMD-3867 RENIM-CM) and cofunded with European structural and investment funds. The CNIC is supported by the ISCIII, the Ministerio de Ciencia e Innovación and the Pro CNIC Foundation and is a Severo Ochoa Center of Excellence (SEV-2015-0505). GSE was supported by a fellowship from the Conchita Rábago Foundation.es_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI) es_ES
dc.subject.meshDisease Models, Animal es_ES
dc.subject.meshAnimals es_ES
dc.subject.meshAtrophy es_ES
dc.subject.meshBasal Ganglia es_ES
dc.subject.meshBrain es_ES
dc.subject.meshBrain Diseases es_ES
dc.subject.meshCerebellum es_ES
dc.subject.meshCerebral Cortex es_ES
dc.subject.meshGlucose es_ES
dc.subject.meshHippocampus es_ES
dc.subject.meshHumans es_ES
dc.subject.meshLafora Disease es_ES
dc.subject.meshMagnetic Resonance Imaging es_ES
dc.subject.meshMice, Knockout es_ES
dc.subject.meshMutation es_ES
dc.subject.meshPositron-Emission Tomography es_ES
dc.subject.meshProtein Tyrosine Phosphatases, Non-Receptor es_ES
dc.subject.meshUbiquitin-Protein Ligases es_ES
dc.titleStructural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderNational Institutes of Health (Estados Unidos) 
dc.contributor.funderMinisterio de Economía y Competitividad (España) 
dc.contributor.funderComunidad de Madrid (España) 
dc.contributor.funderMinisterio de Ciencia e Innovación (España) 
dc.contributor.funderFundación ProCNIC 
dc.contributor.funderUnión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) 
dc.contributor.funderFundación Conchita Rábago de Jiménez Díaz 
dc.identifier.journalInternational journal of molecular scienceses_ES
dc.repisalud.orgCNICCNIC::Unidades técnicas::Imagen Avanzadaes_ES
dc.rights.accessRightsopen accesses_ES

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