{"id":3286,"date":"2019-02-28T09:01:07","date_gmt":"2019-02-28T08:01:07","guid":{"rendered":"http:\/\/www.ipsi.cat\/elfil\/?p=3286"},"modified":"2019-02-28T09:13:11","modified_gmt":"2019-02-28T08:13:11","slug":"cadasil-la-gran-desconeguda","status":"publish","type":"post","link":"https:\/\/www.ipsi.cat\/elfil\/cadasil-la-gran-desconeguda\/","title":{"rendered":"CADASIL, la gran desconeguda"},"content":{"rendered":"

La primera vegada que vaig sentir la paraula “cadasil” va ser en el 2004 a la pel\u00b7l\u00edcula \u201cMar adentro\u201d, on l\u2019actriu Bel\u00e9n Rueda patia dita malaltia, jo dins la meva ignor\u00e0ncia, vaig pensar que li havien canviat el nom i que es referien a l\u2019esclerosi m\u00faltiple. Per desgr\u00e0cia, despr\u00e9s d\u2019uns quants anys, he sabut que \u00e9s una malaltia real, ja que m\u2019ha tocat viure-la de ben a prop. A casa s\u00f3m 7 germans i 4 d\u2019ells la pateixen. <\/span>
\n<\/span>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) \u00e9s una malaltia rara, d\u2019origen gen\u00e8tic que es transmet a la meitat dels fills, en la qual, la mutaci\u00f3 d’un gen fa que els afectats pateixin micro infarts cerebrals, produint ictus recurrents i en un alt percentatge de casos, dem\u00e8ncia preco\u00e7.<\/span>
\n<\/span>Els principals s\u00edmptomes s\u00f3n migranya, infarts cerebrals a edats tempranes (edat mitja de 46 anys), alteracions psiqui\u00e0triques i dem\u00e8ncia preco\u00e7 (edat mitja 55 anys). Com a conseq\u00fc\u00e8ncia, els pacients poden quedar incapacitats, sense poder moure el seu cos, sense poder caminar, sense poder parlar ni entendre el que se\u2019ls diu, sense poder recon\u00e8ixer la seva pr\u00f2pia fam\u00edlia\u2026<\/span><\/p>\n

En l\u2019actualitat \u00e9s una afectaci\u00f3 que no t\u00e9 cura.<\/span><\/p>\n

CADASIL, tot i ser catalogada com una malaltia rara, \u00e9s la causa m\u00e9s freq\u00fcent de dem\u00e8ncia vascular heredit\u00e0ria i la principal causa d\u2019infarts cerebrals d\u2019origen gen\u00e8tic.<\/span><\/p>\n

El Laboratori de Farmacogen\u00e8tica i Gen\u00e8tica de l’ictus de la Fundaci\u00f3 Institut de Recerca de l\u2019Hospital de la Sta Creu i St Pau ha comen\u00e7at a investigar aquesta malaltia. Per\u00f2 com passa en molts projectes d’investigaci\u00f3, no est\u00e0 finan\u00e7at per entitats p\u00fabliques i dep\u00e8n principalment de l’aportaci\u00f3 particular o el micromecenatge.<\/span>
\n<\/span>Des de la \u201cAsociaci\u00f3n CADASIL Espa\u00f1a\u201d es fan diverses activitats per recollir diners, per tal d\u2019ajudar a finan\u00e7ar la investigaci\u00f3. \u00c9s per aix\u00f2, que us proposo que vingueu el dia 31 de mar\u00e7 de 2019, a escoltar al Cor Aurica que cantar\u00e0 a les 18:30h a l’Esgl\u00e9sia Sant Isidor (carrer Comte d\u2019Urgell 176). El preu de l\u2019entrada \u00e9s en forma de donatiu voluntari. Previ a l\u2019actuaci\u00f3, la Dra. Mui\u00f1o, neur\u00f2loga implicada en la investigaci\u00f3, ens far\u00e0 una breu explicaci\u00f3 de la malaltia i del que estan investigant.<\/span><\/p>\n

\"cadasil<\/p>\n

Qui vulgui comprar ja les entrades, cal fer el donatiu al n\u00famero de compte ES27 1491 0001 2421 8747 7027 Triodos Bank, escrivint a la casella de concepte: donatiu concert, i un cop fet l\u2019ingr\u00e9s, enviar un mail a <\/span>socios@cadasilspain.es<\/span><\/a> indicant el nom i quantes entrades es volen, aquestes se us enviaran via mail. Tamb\u00e9 es podran comprar a l\u2019esgl\u00e9sia des d\u2019una hora abans del concert.<\/span>
\n<\/span>Qui no pugui\/vulgui venir al concert per\u00f2 estigui interessat en col.laborar, ho pot fer a trav\u00e9s del n\u00famero de compte ES27 1491 0001 2421 8747 7027 TRIODOS BANK indicant a la casella de concepte: donatiu. <\/span><\/p>\n

Qui vulgui saber m\u00e9s sobre l\u2019Associaci\u00f3 d\u2019aquesta malaltia o\/i el projecte d\u2019investigaci\u00f3 ho pot fer a <\/span>www.cadasil.es<\/span><\/a> i cadasil.org.<\/span><\/p>\n

Dono les gr\u00e0cies a la revista ElFil, per deixar-me difondre l\u2019exist\u00e8ncia d\u2019aquesta malaltia tan poc coneguda i tan dura per qui la pateix.<\/span><\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

EL 31 de mar\u00e7 de 2019 el Cor Aurica far\u00e0 un concert ben\u00e8fic a la parr\u00f2quia de St. Isidor, per ajudar a l\u2019estudi de la malaltia minorit\u00e0ria CADASIL.<\/p>\n

Read More<\/a><\/p>","protected":false},"author":3,"featured_media":3288,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"wpupg_custom_link":[],"wpupg_custom_link_behaviour":[],"wpupg_custom_link_nofollow":[],"wpupg_custom_image":[],"wpupg_custom_image_id":[],"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[93,59,1],"tags":[81,86,91,173,179,180],"class_list":{"0":"post-3286","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-darreres-publicacions","8":"category-noticies","9":"category-general","10":"tag-ipsi","11":"tag-escola","12":"tag-ampa","13":"tag-solidaritat","14":"tag-cadasil","15":"tag-salut","16":"entry"},"yoast_head":"\nCADASIL \u00e9s una malaltia rara i molt poc 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