{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T14:09:46Z","timestamp":1791641386640,"version":"4.3.4"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T00:00:00Z","timestamp":1638230400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T00:00:00Z","timestamp":1638230400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9\u2009mg\/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA).<\/jats:p>\n                <jats:p>Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis.<\/jats:p>\n                <jats:p>To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed.<\/jats:p>\n                <jats:p>The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12883-021-02458-4","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T17:40:57Z","timestamp":1638294057000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Stefano","family":"Cotti Piccinelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Premi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Bonacina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Gilberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Vergani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Gamba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Spezi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilenia","family":"Delrio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u00ebl","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ravanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Gasparotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Magoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,30]]},"reference":[{"key":"2458_CR1","doi-asserted-by":"publisher","unstructured":"Coucke, P.J., Willaert, A., Wessels, M.W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J.E., Mancini, G.M.S., Kambouris, M., Gardella, R., Facchetti, F., Willems, P.J., Forsyth, R., Dietz, H.C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A., 2006. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 38, 452\u2013457. https:\/\/doi.org\/https:\/\/doi.org\/10.1038\/ng1764.","DOI":"10.1038\/ng1764"},{"key":"2458_CR2","doi-asserted-by":"publisher","unstructured":"Beyens, A., Albuisson, J., Boel, A., Al-Essa, M., Al-Manea, W., Bonnet, D., Bostan, O., Boute, O., Busa, T., Canham, N., Cil, E., Coucke, P.J., Cousin, M.A., Dasouki, M., De Backer, J., De Paepe, A., De Schepper, S., De Silva, D., Devriendt, K., De Wandele, I., Deyle, D.R., Dietz, H., Dupuis-Girod, S., Fontenot, E., Fischer-Zirnsak, B., Gezdirici, A., Ghoumid, J., Giuliano, F., Di\u00e9z, N.B., Haider, M.Z., Hardin, J.S., Jeunemaitre, X., Klee, E.W., Kornak, U., Landecho, M.F., Legrand, A., Loeys, B., Lyonnet, S., Michael, H., Moceri, P., Mohammed, S., Mui\u00f1o-Mosquera, L., Nampoothiri, S., Pichler, K., Prescott, K., Rajeb, A., Ramos-Arroyo, M., Rossi, M., Salih, M., Seidahmed, M.Z., Schaefer, E., Steichen-Gersdorf, E., Temel, S., Uysal, F., Vanhomwegen, M., Van Laer, L., Van Maldergem, L., Warner, D., Willaert, A., Collins, T.R., Taylor, A., Davis, E.C., Zarate, Y., Callewaert, B., 2018. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med 20, 1236\u20131245. https:\/\/doi.org\/https:\/\/doi.org\/10.1038\/gim.2017.253.","DOI":"10.1038\/gim.2017.253"},{"key":"2458_CR3","doi-asserted-by":"publisher","unstructured":"Zaidi, S.H.E., Peltekova, V., Meyer, S., Lindinger, A., Paterson, A.D., Tsui, L.-C., Faiyaz-Ul-Haque, M., Teebi, A.S., 2005. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet 67, 183\u2013188. https:\/\/doi.org\/https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00391.x.","DOI":"10.1111\/j.1399-0004.2004.00391.x"},{"key":"2458_CR4","doi-asserted-by":"publisher","unstructured":"Zoppi, N., Chiarelli, N., Cinquina, V., Ritelli, M., Colombi, M., 2015. GLUT10 deficiency leads to oxidative stress and non-canonical \u03b1v\u03b23 integrin-mediated TGF\u03b2 signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Hum Mol Genet 24, 6769\u20136787. https:\/\/doi.org\/https:\/\/doi.org\/10.1093\/hmg\/ddv382.","DOI":"10.1093\/hmg\/ddv382"},{"key":"2458_CR5","doi-asserted-by":"publisher","unstructured":"Cartwright, M.S., Hickling, W.H., Roach, E.S., 2006. Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology 67, 360\u2013361. https:\/\/doi.org\/https:\/\/doi.org\/10.1212\/01.wnl.0000225056.66762.f9.","DOI":"10.1212\/01.wnl.0000225056.66762.f9"},{"key":"2458_CR6","unstructured":"Wei F; Diedrich K.T, Fullerton H.J., deVeber G, Wintermark M, Hodge J, Kirton A., and the Vascular Effects of Infection in Pediatric StrokeArterial Tortuosity: An imaging biomarker of childhood stroke pathogenesis? Stroke. 2016 May; 47(5): 1265\u20131270."},{"key":"2458_CR7","doi-asserted-by":"publisher","unstructured":"Gardella, R., Zoppi, N., Assanelli, D., Muiesan, M.L., Barlati, S., Colombi, M., 2004. Exclusion of candidate genes in a family with arterial tortuosity syndrome. Am J Med Genet A 126A, 221\u2013228. https:\/\/doi.org\/https:\/\/doi.org\/10.1002\/ajrmg.a.20589.","DOI":"10.1002\/ajrmg.a.20589"},{"key":"2458_CR8","doi-asserted-by":"publisher","unstructured":"Bottio, T., Bisleri, G., Piccoli, P., Muneretto, C., 2007. Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. J Thorac Cardiovasc Surg 133, 252\u2013253.https:\/\/doi.org\/https:\/\/doi.org\/10.1016\/j.jtcvs.2006.08.050.","DOI":"10.1016\/j.jtcvs.2006.08.050"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02458-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-021-02458-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02458-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T17:43:00Z","timestamp":1638294180000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-021-02458-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,30]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2458"],"URL":"https:\/\/doi.org\/10.1186\/s12883-021-02458-4","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,30]]},"assertion":[{"value":"25 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable for ethics approval (no need of approval by ethics committee), written informed consent was obtained from the patient.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to partecipate"}},{"value":"Written informed consent was obtained from the patient for the publication of this case report and CARE guidelines were followed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Authors declared no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"464"}}