{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:10:54Z","timestamp":1785161454701,"version":"3.55.0"},"reference-count":76,"publisher":"MathDoc\/Centre Mersenne","issue":"G1","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    La maladie de Parkinson (MP) est une maladie multifactorielle impliquant des facteurs g\u00e9n\u00e9tiques et environnementaux. Cependant, l\u2019\u00e2ge de d\u00e9but, l\u2019\u00e9tendue des l\u00e9sions et la rapidit\u00e9 de la progression peuvent varier de fa\u00e7on consid\u00e9rable, ce qui conduit \u00e0 s\u2019interroger sur l\u2019unicit\u00e9 de la MP. L\u2019identification de formes monog\u00e9niques, dont certaines semblent impliquer des m\u00e9canismes diff\u00e9rents, renforce l\u2019hypoth\u00e8se de formes distinctes qui partagent la pr\u00e9sence d\u2019un syndrome parkinsonien. Alors que le g\u00e8ne\n                    <jats:italic>SNCA<\/jats:italic>\n                    f\u00fbt le premier identifi\u00e9 dans les formes rares, les variants pathog\u00e8nes dans les g\u00e8nes\n                    <jats:italic>GBA1<\/jats:italic>\n                    et\n                    <jats:italic>LRRK2<\/jats:italic>\n                    repr\u00e9sentent les causes g\u00e9n\u00e9tiques ou facteurs de risque de MP les plus communs, et\n                    <jats:italic>PRKN<\/jats:italic>\n                    est le g\u00e8ne le plus souvent impliqu\u00e9 dans les formes autosomiques r\u00e9cessives de MP. Les patients pr\u00e9sentant des variants\n                    <jats:italic>SNCA, GBA1, LRRK2<\/jats:italic>\n                    ou\n                    <jats:italic>PRKN<\/jats:italic>\n                    diff\u00e8rent par certaines de leurs caract\u00e9ristiques cliniques, anatomopathologiques et biochimiques. Ainsi, ces quatre g\u00e8nes associ\u00e9s \u00e0 la MP sont d\u2019un int\u00e9r\u00eat tout particulier pour le d\u00e9veloppement de th\u00e9rapeutiques sp\u00e9cifiques, d\u2019autant que les approches th\u00e9rapeutiques actuelles restent symptomatiques. Cependant, des essais cliniques fond\u00e9s sur la nature du g\u00e8ne impliqu\u00e9 d\u00e9butent. Dans cette revue, nous pr\u00e9sentons les principales caract\u00e9ristiques g\u00e9n\u00e9tiques et physiopathologiques des g\u00e8nes\n                    <jats:italic>SNCA, GBA1, LRRK2 et PRKN<\/jats:italic>\n                    avant de discuter des nouvelles approches th\u00e9rapeutiques qui les ciblent sp\u00e9cifiquement.\n                  <\/jats:p>","DOI":"10.5802\/crbiol.174","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T07:54:45Z","timestamp":1739433285000},"page":"21-33","source":"Crossref","is-referenced-by-count":4,"title":["La maladie de Parkinson\u00a0: de la g\u00e9n\u00e9tique aux th\u00e9rapies cibl\u00e9es"],"prefix":"10.5802","volume":"348","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3505-7114","authenticated-orcid":false,"given":"Guillaume","family":"Cogan","sequence":"first","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"},{"name":"Sorbonne Universit\u00e9, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche M\u00e9dicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0941-3990","authenticated-orcid":false,"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche M\u00e9dicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3842","published-online":{"date-parts":[[2025,2,13]]},"reference":[{"issue":"5","key":"key2025121113372643270_1","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/S1474-4422(18)30499-X","article-title":"Global, regional, and national burden of neurological disorders, 1990\u20132016\u00a0: A systematic analysis for the global burden of disease study 2016","volume":"18","author":"GBD 2016 Neurology Collaborators","year":"2019","unstructured":"[1] GBD 2016 Neurology Collaborators Global, regional, and national burden of neurological disorders, 1990\u20132016\u00a0: A systematic analysis for the global burden of disease study 2016, Lancet. 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