{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:24:53Z","timestamp":1785770693671,"version":"3.56.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T00:00:00Z","timestamp":1749686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      An increasing number of\n                      <jats:italic>ADCY5<\/jats:italic>\n                      \u2010mosaic patients, seemingly with a milder phenotype, are being identified. However, an in\u2010depth assessment of their clinical characteristics is lacking.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We collected and analyzed data from 12 consecutive\n                      <jats:italic>ADCY5<\/jats:italic>\n                      \u2010mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the patients presented with a baseline hyperkinetic motor disorder with paroxysmal motor exacerbations; 30% had isolated paroxysmal dyskinesias (PxD). Caffeine treatment was highly effective. Developmental delay was observed in 5 patients and especially in those with persistent motor symptoms. PxD were the initial motor symptom in 70% of cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>ADCY5<\/jats:italic>\n                      \u2010mosaic carriers may have the same phenotypic spectrum as non\u2010mosaic carriers but with a milder clinical presentation. Isolated PxD with onset in infancy are a red flag for\n                      <jats:italic>ADCY5<\/jats:italic>\n                      \u2010mosaic variants. Particular attention should be paid when genetic analysis of patients with this phenotype is conducted as mosaicism can be easily missed.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70175","type":"journal-article","created":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T10:29:38Z","timestamp":1749724178000},"page":"1968-1971","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>\n                      <i>ADCY5<\/i>\n                    <\/scp>\n                    \u2010Mosaic Variants: A Diagnosis Not to Be Missed"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9096-8792","authenticated-orcid":false,"given":"Alice","family":"Innocenti","sequence":"first","affiliation":[{"name":"Neurology, Epilepsy and Movement Disorders Unit Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, ICM Sorbonne Universit\u00e9, INSERM, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire Neurovasculaire H\u00f4pital Saint Louis  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010C\u00e9line","family":"Fran\u00e7ois\u2010Heude","sequence":"additional","affiliation":[{"name":"Service de Neuropediatrie CHU Montpellier  Montpellier 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Neuropediatrie CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010C\u00e9cile","family":"Chaux","sequence":"additional","affiliation":[{"name":"Service de EEG P\u00e9diatrique CHU de Saint\u2010Etienne  Saint\u2010Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Aude","family":"Spitz","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Desnous","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie APHM, Timone Enfant  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Sarret","sequence":"additional","affiliation":[{"name":"Services de P\u00e9diatrie et G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Estaing, CHU de Clermont\u2010Ferrand  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3869-0564","authenticated-orcid":false,"given":"Philippe","family":"Damier","sequence":"additional","affiliation":[{"name":"Service de Neurologie Nantes Universit\u00e9, CHU de Nantes, CIC1413  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wirth","sequence":"additional","affiliation":[{"name":"Service de Neurologie H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"D\u00e9partement de M\u00e9decine Translationnelle et Neurog\u00e9n\u00e9tique Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM\u2010U964\/CNRS\u2010UMR7104\/Universit\u00e9 de Strasbourg  Illkirch\u2010Graffenstaden France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg Universit\u00e9 de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"Service de Neurologie H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"D\u00e9partement de M\u00e9decine Translationnelle et Neurog\u00e9n\u00e9tique Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM\u2010U964\/CNRS\u2010UMR7104\/Universit\u00e9 de Strasbourg  Illkirch\u2010Graffenstaden France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg Universit\u00e9 de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8908-544X","authenticated-orcid":false,"given":"Emilie","family":"Retailleau","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, ICM Sorbonne Universit\u00e9, INSERM, CNRS, APHP, H\u00f4pital de la Piti\u00e9 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CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re Paris  Paris France"},{"name":"Sorbonne Universit\u00e9 INSERM, CNRS, Institut de Biologie Paris Seine, IBPS, Neuroscience Paris Seine, NPS  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7623-1142","authenticated-orcid":false,"given":"Aur\u00e9lie","family":"M\u00e9neret","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, ICM Sorbonne Universit\u00e9, INSERM, CNRS, APHP, H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Service de Neuropediatrie CHU Montpellier  Montpellier France"},{"name":"Institut des Neurosciences de Montpellier INSERM U 1298  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26494"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2021.1840978"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13796"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002058"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29006"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0282593"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.20014"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001720"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000214"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.05.004"}],"container-title":["Movement 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Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T14:04:22Z","timestamp":1763474662000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,12]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/mdc3.70175"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70175","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,12]]},"assertion":[{"value":"2025-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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