{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:41:02Z","timestamp":1792482062405,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005357","name":"Slovak Research and Development Agency","doi-asserted-by":"publisher","award":["APVV\u201022\u20100279"],"award-info":[{"award-number":["APVV\u201022\u20100279"]}],"id":[{"id":"10.13039\/501100005357","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Rett syndrome (RTT) is an X\u2010linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>We describe five patients (aged 20\u201361\u2009years), unexpectedly diagnosed with RTT, exhibiting a movement\u2010disorder\u2010predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as \u201catypical atypical\u201d RTT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70697","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:46:41Z","timestamp":1780469201000},"page":"2599-2605","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Atypical Atypical\n                    <scp>MECP2<\/scp>\n                    \u2010Related Rett Syndrome Presenting with Movement Disorders\u2010 Predominating Phenotype"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-9588","authenticated-orcid":false,"given":"J\u00e1n","family":"Necp\u00e1l","sequence":"first","affiliation":[{"name":"Department of Neurology Zvolen Hospital  Zvolen Slovakia"},{"name":"Parkinsonism and Movement Disorders Treatment Center Zvolen Hospital  Zvolen Slovakia"},{"name":"Department of Neurology Safarik University  Ko\u0161ice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Stretavsk\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8630","authenticated-orcid":false,"given":"Elisabetta","family":"Indelicato","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ev\u017een","family":"R\u016f\u017ei\u010dka","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"\u0160korv\u00e1nek","sequence":"additional","affiliation":[{"name":"Department of Neurology Safarik University  Ko\u0161ice Slovakia"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovakia"},{"name":"Department of Clinical Neurosciences Safarik University  Kosice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bibi\u00e1na","family":"Jele\u0148ov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology Zvolen Hospital  Zvolen Slovakia"},{"name":"Parkinsonism and Movement Disorders Treatment Center Zvolen Hospital  Zvolen Slovakia"},{"name":"Department of Neurology Safarik University  Ko\u0161ice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9732-8947","authenticated-orcid":false,"given":"Robert","family":"Jech","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8112-9153","authenticated-orcid":false,"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics, School of Medicine Technical University of Munich  Munich Germany"},{"name":"Institute for Advanced Study Technical University of Munich  Garching Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250506"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042077"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30312-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaf059"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.08.007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.1250"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcn.13299"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.06.020"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70697","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.70697","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70697","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:14:36Z","timestamp":1792480476000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,2]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/mdc3.70697"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70697","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,2]]},"assertion":[{"value":"2026-03-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}