{"id":21607,"date":"2022-11-24T14:14:49","date_gmt":"2022-11-24T13:14:49","guid":{"rendered":"https:\/\/idibell.cat\/en\/?post_type=agenda&#038;p=21607"},"modified":"2022-11-24T14:15:15","modified_gmt":"2022-11-24T13:15:15","slug":"idibellseminars-lafora-disease-a-rare-progressive-myoclonus-epilepsy-full-of-surprises","status":"publish","type":"agenda","link":"https:\/\/idibell.cat\/en\/agenda\/idibellseminars-lafora-disease-a-rare-progressive-myoclonus-epilepsy-full-of-surprises\/","title":{"rendered":"#IDIBELLseminars: Lafora disease, a rare progressive myoclonus epilepsy full of surprises"},"content":{"rendered":"<p>Lafora disease (LD) is a rare, fatal neurodegenerative disorder characterized by the presence of tonic-clonic seizures, myoclonus, absences, and visual seizures. The hallmark of the disease is the accumulation of insoluble polyglucosan inclusions, in the brain and other peripheral tissues. Unfortunately, there is not any available treatment yet.<br \/>\nI will present data demonstrating that astrocytes play a main role in the pathophysiology of LD, since they are the cells that accumulate more polyglucosans in the brain, they become reactive, leading to the secretion of pro-inflammatory markers, and they have reduced capacity of glutamate uptake, which could lead to enhanced glutamatergic transmission. Then, I will describe our efforts to define putative biomarkers of the progression of the disease, and finally, I will describe the beneficial effects of the administration of different repurposing drugs in LD mouse models.<\/p>\n<p><em>Hosted by Pablo M Garcia-Roves, Nutrition, Metabolism and Gene Therapy group<\/em><\/p>\n","protected":false},"featured_media":21608,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}}},"tags":[323],"class_list":["post-21607","agenda","type-agenda","status-publish","has-post-thumbnail","hentry","tag-translationalmedicine"],"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/agenda\/21607","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/agenda"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/agenda"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/21608"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=21607"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=21607"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}