{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T10:47:13Z","timestamp":1792234033944,"version":"4.4.0"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background and Purpose\u2014<\/jats:italic>\n            <\/jats:bold>\n            Recently\n            <jats:italic>COL4A1<\/jats:italic>\n            , a gene encoding the type IV collagen \u03b11 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel\n            <jats:italic>COL4A1<\/jats:italic>\n            mutation.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods\u2014<\/jats:italic>\n            <\/jats:bold>\n            We performed a clinical and genetic study of a 25-year-old-patient with an 8-year history of recurrent ICHs.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            This young, normotensive patient with a history of infantile hemiparesis had experienced, since the age of 17, recurrent, spontaneous, deep ICHs occurring during sports activities. He became severely disabled. Brain magnetic resonance imaging showed ventricular enlargement, diffuse white-matter abnormalities, and newly appearing, deep, silent microbleeds. Extensive investigations found no cause. There was no family history of stroke or infantile hemiparesis. A novel\n            <jats:italic>COL4A1<\/jats:italic>\n            mutation (G805R) was identified.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            The clinical spectrum of\n            <jats:italic>COL4A1<\/jats:italic>\n            mutations includes recurrent ICHs in association with diffuse leukoencephalopathy in young adults, even in the absence of a family history of infantile hemiparesis or ICH. In addition to birth trauma, anticoagulant use, and head trauma previously reported, sports activities may be a precipitating factor of ICHs in persons with\n            <jats:italic>COL4A1<\/jats:italic>\n            mutations.\n          <\/jats:p>","DOI":"10.1161\/strokeaha.106.475194","type":"journal-article","created":{"date-parts":[[2007,3,23]],"date-time":"2007-03-23T00:38:45Z","timestamp":1174610325000},"page":"1461-1464","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":99,"title":["<i>COL4A1<\/i>\n            Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage"],"prefix":"10.1161","volume":"38","author":[{"given":"Katayoun","family":"Vahedi","sequence":"first","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Kubis","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Boukobza","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh","family":"Arnoult","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Massin","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Tournier-Lasserve","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Germaine","family":"Bousser","sequence":"additional","affiliation":[{"name":"From AP-HP, Service de Neurologie (K.V., N.K., M.G.B.), Centre de Re\u0301fe\u0301rence pour les Maladies Vasculaires Rares du Syste\u0300me Nerveux Central et de la Re\u0301tine (K.V., M.B., P.M., E.T.-L., M.G.B.), and Physiologie-Explorations Fonctionnelles (N.K.), Ho\u0302pital Lariboisie\u0300re, Paris; INSERM U689 (N.K.), Universite\u0301 Paris VII, Paris; AP-HP, Service de Neuroradiologie (M.B.), Ho\u0302pital Lariboisie\u0300re; Paris; INSERM U740 (M.A., E.T.-L., M.G.B.), Universite\u0301 Paris VII, Paris; and AP-HP, Service d\u2019Ophthalmologie..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200112000-00002"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20557"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-993971"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2003.10.002"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123113.46672.68"},{"key":"e_1_3_2_7_2","first-page":"1136.","volume":"10","year":"2005","unstructured":"Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2005; 10: 1136.","journal-title":"J Med Genet"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.60.1.57"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20715"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2005.00341.x"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91557-5"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl177"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.str.0000143224.36527.44"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.106.475194","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T12:02:54Z","timestamp":1715601774000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.106.475194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1161\/STROKEAHA.106.475194"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.106.475194","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5]]},"assertion":[{"value":"2006-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2006-11-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2007-03-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}