{"doc_desc":{"title":"La maladie d'Alzheimer (1994)","idno":"IE0190","producers":[{"name":"Service des enqu\u00eates et des sondages, Ined, Institut national d'\u00e9tudes d\u00e9mographiques","abbreviation":"Ined","affiliation":"","role":""}],"prod_date":"2026-02-09","version_statement":{"version":"Version 1.0 (2011-09-08) Version 2.0 (2021-08-25) : Mise en conformit\u00e9 avec le CESSDA, enrichissement des m\u00e9tadonn\u00e9es Version 3.0 (2025-12-30)","version_date":"2026-02-09"}},"study_desc":{"title_statement":{"idno":"IE0190","title":"La maladie d'Alzheimer (1994)","translated_title":"Alzheimer's disease (1994)"},"authoring_entity":[{"name":"BELLIS Gil","affiliation":"Ined"}],"oth_id":[{"name":"CLERGET-DAPROUX Fran\u00e7oise","affiliation":"Inserm","email":"","role":"Responsable du projet Alzheimer"}],"production_statement":{"producers":[{"name":"Institut national d'\u00e9tudes d\u00e9mographiques","affiliation":"","role":""}],"prod_date":"1994"},"distribution_statement":{"distributors":[{"name":"Institut national d'\u00e9tudes d\u00e9mographiques","abbreviation":"Progedo-Ined","affiliation":"","uri":"https:\/\/www.ined.fr\/"}],"distribution_date":"2011-09-08"},"bib_citation":"La maladie d\u2019Alzheimer (1994). Ined [producteur].","holdings":[{"text":"","location":"","callno":"","uri":"https:\/\/data.ined.fr\/index.php\/catalog\/212"}],"study_info":{"keywords":[{"keyword":"D\u00c9MENCE S\u00c9NILE","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/3\/722bcd08-87ec-4111-ba7b-78710820c8fd"},{"keyword":"G\u00c9N\u00c9ALOGIE","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/3\/379db31f-b0f9-40e1-90c8-606545af2449"},{"keyword":"G\u00c9N\u00c9TIQUE","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/3\/df2c54c4-4f48-4da5-a0bf-e39cd8efa45d"},{"keyword":"MALADIES DU SYST\u00c8ME NERVEUX CENTRAL","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/3\/4aa27a00-e693-4fa2-b7c2-93388e22928b"},{"keyword":"SANTE","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/91c1b36f-85ff-4345-9678-86a4950fe57A"},{"keyword":"SANTE PUBLIQUE","vocab":"ELSST","uri":"https:\/\/elsst.cessda.eu\/id\/3\/2884bafb-6782-421d-982d-84684d718745"}],"topics":[{"topic":"3. Esp\u00e9rance de vie, Mortalit\u00e9, Sant\u00e9","vocab":"Ined","uri":"https:\/\/data.ined.fr\/index.php\/catalog\/"},{"topic":"Maladies, troubles sp\u00e9cifiques et conditions m\u00e9dicales","vocab":"CESSDA Topic Classification","uri":"https:\/\/vocabularies.cessda.eu\/vocabulary\/TopicClassification_[CODE]?v=4.2.2"},{"topic":"Sant\u00e9 publique","vocab":"CESSDA Topic Classification","uri":"https:\/\/vocabularies.cessda.eu\/vocabulary\/TopicClassification_[CODE]?v=4.2.2"},{"topic":"Signes et sympt\u00f4mes ; conditions pathologiques","vocab":"CESSDA Topic Classification","uri":"https:\/\/vocabularies.cessda.eu\/vocabulary\/TopicClassification_[CODE]?v=4.2.2"}],"abstract":"\u00c0 la suite de travaux consacr\u00e9s aux g\u00e9n\u00e9alogies et reconstitutions de familles en g\u00e9n\u00e9tique humaine, Gil Bellis a \u00e9t\u00e9 sollicit\u00e9 par l\u2019Inserm pour collaborer \u00e0 un programme de recherche consistant \u00e0 coupler g\u00e9n\u00e9tique des populations et g\u00e9n\u00e9tique m\u00e9dicale. Il s\u2019agissait, en premier lieu, de localiser le g\u00e8ne responsable de la maladie d\u2019Alzheimer d\u2019apparition pr\u00e9coce (diagnostiqu\u00e9e avant l\u2019\u00e2ge de 35 ans) ; en second lieu, de fournir les donn\u00e9es permettant la mise en place d\u2019un conseil g\u00e9n\u00e9tique aupr\u00e8s des familles pr\u00e9sentant cette maladie. \u00c0 partir de crit\u00e8res cliniques fournis par les \u00e9quipes m\u00e9dicales, un corpus de donn\u00e9es g\u00e9n\u00e9alogiques a \u00e9t\u00e9 constitu\u00e9 pour 6 familles avec Alzheimer pr\u00e9coce. Cette \u00e9tude a permis de tirer avantage des r\u00e9seaux g\u00e9n\u00e9alogiques entre apparent\u00e9s \u00e9loign\u00e9s afin d\u2019utiliser l\u2019analyse de liaison \u2013 m\u00e9thode consistant \u00e0 tester l\u2019ind\u00e9pendance de la transmission conjointe d\u2019un marqueur de l\u2019ADN et d\u2019un g\u00e8ne non encore localis\u00e9 mais responsable d\u2019une pathologie \u2013 dans le cas d\u2019une maladie \u00e0 h\u00e9r\u00e9dit\u00e9 polyg\u00e9nique occasionnant une faible esp\u00e9rance de vie. Cette approche a contribu\u00e9 \u00e0 la cartographie des g\u00e8nes et \u00e0 l\u2019identification des membres porteurs de mutations d\u00e9l\u00e9t\u00e8res dans les familles \u00e0 risque.","time_periods":[{"start":"1850-01-01","end":"1994-12-31","cycle":""}],"coll_dates":[{"start":"1994-01-01","end":"1994-12-31","cycle":""}],"nation":[{"name":"France","abbreviation":"FR"}],"geog_coverage":"France","analysis_unit":"Individu","universe":"Personnes atteintes de la maladie d\u2019Alzheimer d\u2019apparition pr\u00e9coce (diagnostiqu\u00e9e avant l\u2019\u00e2ge de 35 ans).","data_kind":"Donn\u00e9es cliniques ou m\u00e9dicales, donn\u00e9es administratives"},"method":{"data_collection":{"time_method":"Transversale","data_collectors":[{"name":"Institut national d'\u00e9tudes d\u00e9mographiques","abbreviation":"Ined","affiliation":""}],"sampling_procedure":"Non probabiliste : disponibilit\u00e9\n6 familles avec sujets atteints de la maladie d\u2019Alzheimer d\u2019apparition pr\u00e9coce, \u00e0 partir desquelles les g\u00e9n\u00e9alogies ascendantes ont \u00e9t\u00e9 reconstitu\u00e9es.","coll_mode":["Compilation \/ synth\u00e8se\nLa collecte a consist\u00e9 en un examen de donn\u00e9es m\u00e9dicales et cliniques ainsi qu\u2019un d\u00e9pouillement des registres paroissiaux et des registres d\u2019\u00e9tat-civil."],"research_instrument":"Consignes de collecte de donn\u00e9es : Guide de collecte de donn\u00e9es secondaires"},"analysis_info":{"response_rate":"12 familles avaient \u00e9t\u00e9 identifi\u00e9es et 6 ont donn\u00e9 leur accord."}}},"schematype":"survey"}