{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T07:43:31Z","timestamp":1772178211743,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in\n                    <jats:italic>PTEN<\/jats:italic>\n                    \u2010related hamartoma tumor syndrome (PHTS). However, PHTS\u2010associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a\n                    <jats:italic>PTEN<\/jats:italic>\n                    pathogenic variant identified between 2007 and 2020 in our laboratory (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200958), and for whom brain imaging was available. Two patients had DAVF (2\/58, 3.4%), both presenting at advanced stages: a 34\u2010year\u2010old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21\u2010year\u2010old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF\/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF\/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case\u2010by\u2010case basis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14515","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T23:08:55Z","timestamp":1709248135000},"page":"90-94","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cerebral dural arteriovenous fistulas in patients with\n                    <scp>\n                      <i>PTEN<\/i>\n                    <\/scp>\n                    \u2010related hamartoma tumor syndrome"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7873-0992","authenticated-orcid":false,"given":"Anna","family":"Gerasimenko","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau \u2010 Paris Brain Institute \u2010 ICM Inserm, CNRS, H\u00f4pital la Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"},{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau \u2010 Paris Brain Institute \u2010 ICM Inserm, CNRS, H\u00f4pital la Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"},{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Naggara","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 INSERM UMR 1266 IMA\u2010BRAIN, GHU Paris, Service de Neuroradiologie  Paris France"},{"name":"APHP.Universit\u00e9 Paris Cit\u00e9, Institut Imagine INSERM U1000, H\u00f4pital Necker \u2010 Enfants Malades, Service de Radiologie P\u00e9diatrique UMR 1163  Paris France"},{"name":"APHP.Universit\u00e9 Paris Cit\u00e9 Centre Fran\u00e7ais pour les AVC P\u00e9diatriques, INSERM U894  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, Unit\u00e9 Mixte de Recherche Scientifique 938 et SIRIC CURAMUS Centre de Recherche Saint\u2010Antoine, Equipe Instabilit\u00e9 des Microsatellites et Cancer  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale APHP.Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samar","family":"Ekram","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics College of Medicine, Umm Al\u2010Qura University  Mecca Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solveig","family":"Heide","sequence":"additional","affiliation":[{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Sorato","sequence":"additional","affiliation":[{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxime","family":"Mazowiecki","sequence":"additional","affiliation":[{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Perrin","sequence":"additional","affiliation":[{"name":"APHP.Universit\u00e9 Paris Cit\u00e9 H\u00f4pital Robert\u2010Debr\u00e9, Service de G\u00e9n\u00e9tique  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystelle","family":"Colas","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Sciences Lettres Institut Curie, Service de G\u00e9n\u00e9tique  Paris 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Chehadeh","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux Universitaires de Strasbourg, H\u00f4pital de Hautepierre Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Service de G\u00e9n\u00e9tique M\u00e9dicale  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4819-0264","authenticated-orcid":false,"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"APHP.Universit\u00e9 Paris Cit\u00e9 H\u00f4pital Robert\u2010Debr\u00e9, Service de G\u00e9n\u00e9tique  Paris France"},{"name":"INSERM U1141 H\u00f4pital Robert\u2010Debr\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Maurey","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux Universitaires Paris Saclay, H\u00f4pital Bic\u00eatre Centre National de R\u00e9f\u00e9rence pour les Maladies Rares du Cerveau et de la Moelle \u00c9pini\u00e8re, 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France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Boespflug\u2010Tanguy","sequence":"additional","affiliation":[{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Service de Dermatologie  Paris France"},{"name":"APHP.Universit\u00e9 Paris Cit\u00e9 H\u00f4pital Robert Debr\u00e9, Service de Neurop\u00e9diatrie  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Bourrat","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 NeuroDiderot, UMR 1141  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"APHP.Universit\u00e9 Paris Cit\u00e9 H\u00f4pital Robert\u2010Debr\u00e9, Service de G\u00e9n\u00e9tique  Paris 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H\u00f4pital Robert\u2010Debr\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie P\u00e9diatrique GHICL, H\u00f4pital Saint Vincent de Paul  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau \u2010 Paris Brain Institute \u2010 ICM Inserm, CNRS, H\u00f4pital la Piti\u00e9 Salp\u00eatri\u00e8re  Paris France"},{"name":"APHP.Sorbonne Universit\u00e9 GH Piti\u00e9 Salp\u00eatri\u00e8re et Trousseau, Service de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence \"d\u00e9ficiences intellectuelles de causes rares\"  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annouk","family":"Bisdorff","sequence":"additional","affiliation":[{"name":"APHP.Sorbonne Universit\u00e9, CHU Armand Trousseau Service de Neurop\u00e9diatrie\u2010Pathologie du d\u00e9veloppement, Centre de R\u00e9f\u00e9rence Maladies Rares Neurog\u00e9n\u00e9tiques  Paris France"},{"name":"CHU de Strasbourg Service de G\u00e9n\u00e9tique M\u00e9dicale, IGMA  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick R.","family":"Benusiglio","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, Unit\u00e9 Mixte de Recherche Scientifique 938 et SIRIC CURAMUS Centre de Recherche Saint\u2010Antoine, Equipe Instabilit\u00e9 des Microsatellites et Cancer  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale APHP.Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris 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RN","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.048934"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23636"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.2463\/mrms.2014\u20100120"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X20969218"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijs.12337"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/svn\u20102019\u2010000269"}],"container-title":["Clinical 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