{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T05:43:03Z","timestamp":1776058983936,"version":"3.50.1"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:00:00Z","timestamp":1776038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>\n                    Ceramide transporter syndrome (CerTra syndrome) is a rare neurodevelopmental disorder caused by pathogenic variants in\n                    <jats:italic>CERT1<\/jats:italic>\n                    gene encoding ceramide transporter (CERT). These variants disrupt ceramide transport and sphingolipid homeostasis, leading to a clinical phenotype that includes developmental delay, movement abnormalities, and structural brain anomalies. Despite growing recognition of this condition, detailed neuroimaging and neuropathological characterization remain limited. Here, we present a 12-year-old girl with a pathogenic\n                    <jats:italic>CERT1<\/jats:italic>\n                    variant complicated by sudden unexplained death, who presented with unreported neuroimaging abnormalities in choroid plexus (ChP) and perivascular space (PVS). Clinical Magnetic Resonance Imaging (MRI) obtained approximately 10\u202fyears prior to death, as well as postmortem MRI, revealed bilateral cystic enlargement of the ChP and prominent PVS filled with abundant proteinaceous material in white matter. Neuropathological examination demonstrated marked ChP epithelial disorganization, reduced aquaporin-1 (AQP1) expression, cyst formation, and focal calcifications, which may be associated with disturbances in cerebrospinal fluid (CSF) dynamics. These findings raise the possibility that\n                    <jats:italic>CERT1<\/jats:italic>\n                    variants may be associated with ChP architectural changes and altered perivascular clearance.\n                  <\/jats:p>","DOI":"10.3389\/fneur.2026.1792598","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T04:47:15Z","timestamp":1776055635000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Choroid plexus and perivascular space abnormalities in CerTra syndrome: neuroimaging and histological findings"],"prefix":"10.3389","volume":"17","author":[{"given":"Chenyang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, New York University Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Leitner","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Department of Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Center for Cognitive Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huize","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, New York University Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Gould","sequence":"additional","affiliation":[{"name":"Department of Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Sudden Unexplained Death in Childhood Foundation","place":["Roseland, NJ, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orrin","family":"Devinsky","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Department of Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"William","sequence":"additional","affiliation":[{"name":"Department of Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Department of Pathology, NYU Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Wisniewski","sequence":"additional","affiliation":[{"name":"Department of Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Center for Cognitive Neurology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Department of Pathology, NYU Grossman School of Medicine","place":["New York, NY, United States"]},{"name":"Department of Psychiatry, NYU Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youssef Zaim","family":"Wadghiri","sequence":"additional","affiliation":[{"name":"Department of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, New York University Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiangyang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, New York University Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulin","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, New York University Grossman School of Medicine","place":["New York, NY, United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"101338","DOI":"10.1016\/j.jbc.2021.101338","article-title":"Intellectual-disability-associated mutations in the ceramide transport protein gene Cert1 lead to aberrant function and subcellular distribution","volume":"297","author":"Tamura","year":"2021","journal-title":"J Biol Chem"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Large-scale discovery of novel genetic causes of developmental 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