{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T06:10:36Z","timestamp":1791612636386,"version":"4.3.4"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T00:00:00Z","timestamp":1689033600000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Tuscany Region Call for Health 2018"},{"name":"Brain Optical Imaging Project"},{"DOI":"10.13039\/501100015694","name":"Fondazione Cassa di Risparmio di Firenze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015694","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizure semiology, head circumference. Thirty-five brain MRI from 22 unrelated patients were included. The median age at study entry was 13.4\u00a0years. In 14\/22 patients (85.7%), MRI in the first year of life was unremarkable in all but two. In 11\/22, we performed MRI after 24\u00a0months of age (range 2.5\u201323\u00a0years). In 8 out of 11 (72.7%), MRI showed supratentorial atrophy and in six cerebellar atrophy. Quantitative analysis detected volumetric reduction of the whole brain (\u221217.7%, P-value\u2009=\u20090.014), including both white matter (\u221225.7%, P-value\u2009=\u20090.005) and cortical gray matter (\u22129.1%, P-value\u2009=\u20090.098), with a reduction of surface area (\u221218.0%, P-value\u2009=\u20090.032), mainly involving the temporal regions, correlated with the head circumference (\u03c1\u2009=\u20090.79, P-value\u2009=\u20090.109). Both the qualitative structural assessment and the quantitative analysis detected brain volume reduction involving the gray and white matter. These neuroimaging findings may be related to either progressive changes due to CDD pathogenesis, or to the extreme severity of epilepsy, or both. Larger prospective studies are needed to clarify the bases for the structural changes we observed.<\/jats:p>","DOI":"10.1093\/cercor\/bhad235","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T02:56:03Z","timestamp":1689044163000},"page":"9709-9717","source":"Crossref","is-referenced-by-count":21,"title":["CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome"],"prefix":"10.1093","volume":"33","author":[{"given":"Nicola","family":"Specchio","sequence":"first","affiliation":[{"name":"Clinical and Experimental Neurology, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Trivisano","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Neurology, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Lenge","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCCS , Florence, 50139, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Ferretti","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Neurology, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Mei","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCCS , Florence, 50139, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parrini","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCCS , Florence, 50139, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Napolitano","sequence":"additional","affiliation":[{"name":"Medical Physics Unit, Enterprise Risk Management, Bambino Ges\u00f9 Children's Hospital, IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Rossi-Espagnet","sequence":"additional","affiliation":[{"name":"Functional and Interventional Neuroimaging Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Talenti","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Neuroradiology Unit, Azienda Ospedale-Universit\u00e0 di Padova , Padova 35128 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Longo","sequence":"additional","affiliation":[{"name":"Functional and Interventional Neuroimaging Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Proietti","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"},{"name":"University of Verona , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ragona","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milano 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Freri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milano 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Solazzi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milano 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milano 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Darra","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"},{"name":"University of Verona , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo Dalla","family":"Bernardina","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"},{"name":"University of Verona , Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, , Verona 37121 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Research Area on Neurology and Neurorehabilitation, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS , Rome 00050 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCCS , Florence, 50139, 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