{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:04:04Z","timestamp":1778817844811,"version":"3.51.4"},"reference-count":81,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2015,6,3]],"date-time":"2015-06-03T00:00:00Z","timestamp":1433289600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1007\/s00415-015-7794-4","type":"journal-article","created":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T22:39:35Z","timestamp":1433284775000},"page":"2601-2616","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Monogenic causes of stroke: now and the future"],"prefix":"10.1007","volume":"262","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4056-9205","authenticated-orcid":false,"given":"Rhea Y. Y.","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugh S.","family":"Markus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,6,3]]},"reference":[{"key":"7794_CR1","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S1474-4422(10)70104-6","volume":"9","author":"L Pantoni","year":"2010","unstructured":"Pantoni L (2010) Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol 9:689\u2013701","journal-title":"Lancet Neurol"},{"key":"7794_CR2","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/383707a0","volume":"383","author":"A Joutel","year":"1996","unstructured":"Joutel A, Corpechot C, Ducros A et al (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707\u2013710","journal-title":"Nature"},{"key":"7794_CR3","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1136\/jnnp.2004.051847","volume":"76","author":"SSM Razvi","year":"2005","unstructured":"Razvi SSM, Davidson R, Bone I, Muir KW (2005) The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 76:739\u2013741","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"7794_CR4","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1212\/WNL.0b013e31824d586c","volume":"78","author":"SK Narayan","year":"2012","unstructured":"Narayan SK, Gorman G, Kalaria RN et al (2012) The minimum prevalence of CADASIL in northeast England. Neurology 78:1025\u20131027","journal-title":"Neurology"},{"key":"7794_CR5","doi-asserted-by":"crossref","unstructured":"Rutten-Jacobs LC, Kilarski LL, Bevan S et al (2015) Abstract 26: Prevalence of CADASIL and Fabry Disease in a Large Cohort of MRI defined Younger onset Lacunar Stroke. Stroke 46:A26","DOI":"10.1161\/str.46.suppl_1.26"},{"key":"7794_CR6","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1161\/STROKEAHA.109.568402","volume":"41","author":"P Adib-Samii","year":"2010","unstructured":"Adib-Samii P, Brice G, Martin RJ, Markus HS (2010) Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke 41:630\u2013634","journal-title":"Stroke"},{"key":"7794_CR7","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1002\/ana.410440506","volume":"44","author":"M Dichgans","year":"1998","unstructured":"Dichgans M, Mayer M, Uttner I et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44:731\u2013739","journal-title":"Ann Neurol"},{"key":"7794_CR8","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1161\/01.STR.30.6.1230","volume":"30","author":"DW Desmond","year":"1999","unstructured":"Desmond DW, Moroney JT, Lynch T et al (1999) The natural history of CADASIL: a pooled analysis of previously published cases. Stroke 30:1230\u20131233","journal-title":"Stroke"},{"key":"7794_CR9","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1212\/01.WNL.0000158655.71323.8A","volume":"64","author":"S Roine","year":"2005","unstructured":"Roine S, P\u00f6yh\u00f6nen M, Timonen S et al (2005) Neurologic symptoms are common during gestation and puerperium in CADASIL. Neurology 64:1441\u20131443","journal-title":"Neurology"},{"key":"7794_CR10","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1136\/practneurol-2014-000870","volume":"15","author":"S Hinze","year":"2015","unstructured":"Hinze S, Goonasekera M, Nannucci S et al (2015) Longitudinally extensive spinal cord infarction in CADASIL. Pract Neurol 15:60\u201362","journal-title":"Pract Neurol"},{"key":"7794_CR11","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","volume":"3","author":"E Tournier-Lasserve","year":"1993","unstructured":"Tournier-Lasserve E, Joutel A, Melki J et al (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3:256\u2013259","journal-title":"Nat Genet"},{"key":"7794_CR12","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1212\/WNL.56.5.628","volume":"56","author":"M O\u2019Sullivan","year":"2001","unstructured":"O\u2019Sullivan M, Jarosz JM, Martin RJ et al (2001) MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 56:628\u2013634","journal-title":"Neurology"},{"key":"7794_CR13","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1212\/WNL.57.6.1066","volume":"57","author":"SA Lesnik Oberstein","year":"2001","unstructured":"Lesnik Oberstein SA, van den Boom R, van Buchem MA et al (2001) Cerebral microbleeds in CADASIL. Neurology 57:1066\u20131070","journal-title":"Neurology"},{"key":"7794_CR14","doi-asserted-by":"crossref","first-page":"e65482","DOI":"10.1371\/journal.pone.0065482","volume":"8","author":"M Morroni","year":"2013","unstructured":"Morroni M, Marzioni D, Ragno M et al (2013) Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients. PLoS One 8:e65482","journal-title":"PLoS One"},{"key":"7794_CR15","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/brain\/awh223","volume":"127","author":"S Singhal","year":"2004","unstructured":"Singhal S, Bevan S, Barrick T et al (2004) The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain 127:2031\u20132038","journal-title":"Brain"},{"key":"7794_CR16","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1161\/01.STR.0000245084.35575.66","volume":"37","author":"C Opherk","year":"2006","unstructured":"Opherk C, Peters N, Holtmannsp\u00f6tter M et al (2006) Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. Stroke 37:2684\u20132689","journal-title":"Stroke"},{"key":"7794_CR17","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jstrokecerebrovasdis.2010.11.008","volume":"20","author":"T Fukutake","year":"2011","unstructured":"Fukutake T (2011) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis 20:85\u201393","journal-title":"J Stroke Cerebrovasc Dis"},{"key":"7794_CR18","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1212\/WNL.0b013e3181ff96ac","volume":"75","author":"M Mendioroz","year":"2010","unstructured":"Mendioroz M, Fern\u00e1ndez-Cadenas I, Del R\u00edo-Espinola A et al (2010) A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology 75:2033\u20132035","journal-title":"Neurology"},{"key":"7794_CR19","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1159\/000117096","volume":"35","author":"T Fukutake","year":"1995","unstructured":"Fukutake T, Hirayama K (1995) Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 35:69\u201379","journal-title":"Eur Neurol"},{"key":"7794_CR20","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1212\/WNL.58.5.817","volume":"58","author":"S Yanagawa","year":"2002","unstructured":"Yanagawa S, Ito N, Arima K, Ikeda S-IS (2002) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 58:817\u2013820","journal-title":"Neurology"},{"key":"7794_CR21","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1046\/j.1440-1789.2003.00519.x","volume":"23","author":"K Arima","year":"2003","unstructured":"Arima K, Yanagawa S, Ito N, Ikeda S (2003) Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). Neuropathology 23:327\u2013334","journal-title":"Neuropathology"},{"key":"7794_CR22","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1038\/ng2082","volume":"39","author":"A Richards","year":"2007","unstructured":"Richards A, van den Maagdenberg AMJM, Jen JC et al (2007) C-terminal truncations in human 3\u2032-5\u2032 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 39:1068\u20131070","journal-title":"Nat Genet"},{"key":"7794_CR23","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1086\/321975","volume":"69","author":"RA Ophoff","year":"2001","unstructured":"Ophoff RA, DeYoung J, Service SK et al (2001) Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1\u2013p21.3. Am J Hum Genet 69:447\u2013453","journal-title":"Am J Hum Genet"},{"key":"7794_CR24","author":"JC DiFrancesco","year":"2014","unstructured":"DiFrancesco JC, Novara F, Zuffardi O et al (2014) TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. Neurol Sci. doi: 10.1007\/s10072-014-1944-9","journal-title":"Neurol Sci"},{"key":"7794_CR25","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.4161\/cc.7.12.6162","volume":"7","author":"D Kavanagh","year":"2008","unstructured":"Kavanagh D, Spitzer D, Kothari PH et al (2008) New roles for the major human 3\u2032-5\u2032 exonuclease TREX1 in human disease. Cell Cycle 7:1718\u20131725","journal-title":"Cell Cycle"},{"key":"7794_CR26","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1007\/s00415-013-7050-8","volume":"260","author":"N Pelzer","year":"2013","unstructured":"Pelzer N, de Vries B, Boon EMJ et al (2013) Heterozygous TREX1 mutations in early-onset cerebrovascular disease. J Neurol 260:2188\u20132190","journal-title":"J Neurol"},{"key":"7794_CR27","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/WCO.0b013e32834232c6","volume":"24","author":"K Vahedi","year":"2011","unstructured":"Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24:63\u201368","journal-title":"Curr Opin Neurol"},{"key":"7794_CR28","doi-asserted-by":"crossref","first-page":"e513","DOI":"10.1161\/STROKEAHA.110.581918","volume":"41","author":"S Lanfranconi","year":"2010","unstructured":"Lanfranconi S, Markus HS (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 41:e513\u2013e518","journal-title":"Stroke"},{"key":"7794_CR29","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1056\/NEJMoa053727","volume":"354","author":"DB Gould","year":"2006","unstructured":"Gould DB, Phalan FC, van Mil SE et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489\u20131496","journal-title":"N Engl J Med"},{"key":"7794_CR30","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1212\/01.wnl.0000295994.46586.e7","volume":"69","author":"K Vahedi","year":"2007","unstructured":"Vahedi K, Boukobza M, Massin P et al (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology 69:1564\u20131568","journal-title":"Neurology"},{"key":"7794_CR31","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1212\/WNL.0b013e3181c3fd12","volume":"73","author":"S Alamowitch","year":"2009","unstructured":"Alamowitch S, Plaisier E, Favrole P et al (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873\u20131882","journal-title":"Neurology"},{"key":"7794_CR32","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1038\/ejhg.2012.20","volume":"20","author":"E Verbeek","year":"2012","unstructured":"Verbeek E, Meuwissen MEC, Verheijen FW et al (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 20:844\u2013851","journal-title":"Eur J Hum Genet"},{"key":"7794_CR33","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1212\/WNL.0000000000000769","volume":"83","author":"D Renard","year":"2014","unstructured":"Renard D, Min\u00e9 M, Pipiras E et al (2014) Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications. Neurology 83:1029\u20131031","journal-title":"Neurology"},{"key":"7794_CR34","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","volume":"337","author":"SC Garman","year":"2004","unstructured":"Garman SC, Garboczi DN (2004) The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337:319\u2013335","journal-title":"J Mol Biol"},{"key":"7794_CR35","doi-asserted-by":"crossref","first-page":"425","DOI":"10.7326\/0003-4819-146-6-200703200-00007","volume":"146","author":"JTR Clarke","year":"2007","unstructured":"Clarke JTR (2007) Narrative review: Fabry disease. Ann Intern Med 146:425\u2013433","journal-title":"Ann Intern Med"},{"key":"7794_CR36","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.2007.08002.x","volume":"157","author":"CH Orteu","year":"2007","unstructured":"Orteu CH, Jansen T, Lidove O et al (2007) Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol 157:331\u2013337","journal-title":"Br J Dermatol"},{"key":"7794_CR37","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1007\/s00415-011-6278-4","volume":"259","author":"M Viana-Baptista","year":"2012","unstructured":"Viana-Baptista M (2012) Stroke and Fabry disease. J Neurol 259:1019\u20131028","journal-title":"J Neurol"},{"key":"7794_CR38","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1212\/WNL.50.6.1746","volume":"50","author":"KE Crutchfield","year":"1998","unstructured":"Crutchfield KE, Patronas NJ, Dambrosia JM et al (1998) Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 50:1746\u20131749","journal-title":"Neurology"},{"key":"7794_CR39","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","volume":"366","author":"A Rolfs","year":"2005","unstructured":"Rolfs A, B\u00f6ttcher T, Zschiesche M et al (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366:1794\u20131796","journal-title":"Lancet"},{"key":"7794_CR40","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1161\/STROKEAHA.109.570499","volume":"41","author":"MV Baptista","year":"2010","unstructured":"Baptista MV, Ferreira S, Pinho-E-Melo T et al (2010) Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study\u2013\u2013screening genetic conditions in Portuguese young stroke patients. Stroke 41:431\u2013436","journal-title":"Stroke"},{"key":"7794_CR41","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","volume":"93","author":"WR Wilcox","year":"2008","unstructured":"Wilcox WR, Oliveira JP, Hopkin RJ et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93:112\u2013128","journal-title":"Mol Genet Metab"},{"key":"7794_CR42","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cccn.2004.10.019","volume":"353","author":"GE Linthorst","year":"2005","unstructured":"Linthorst GE, Vedder AC, Aerts JMFG, Hollak CEM (2005) Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 353:201\u2013203","journal-title":"Clin Chim Acta"},{"key":"7794_CR43","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","volume":"285","author":"R Schiffmann","year":"2001","unstructured":"Schiffmann R, Kopp JB, Austin HA et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285:2743\u20132749","journal-title":"JAMA"},{"key":"7794_CR44","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1242\/bio.20135009","volume":"2","author":"JA Siegenthaler","year":"2013","unstructured":"Siegenthaler JA, Choe Y, Patterson KP et al (2013) Foxc1 is required by pericytes during fetal brain angiogenesis. Biol Open 2:647\u2013659","journal-title":"Biol Open"},{"key":"7794_CR45","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1038\/ejhg.2009.93","volume":"17","author":"Z T\u00fcmer","year":"2009","unstructured":"T\u00fcmer Z, Bach-Holm D (2009) Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 17:1527\u20131539","journal-title":"Eur J Hum Genet"},{"key":"7794_CR46","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.1002\/ajmg.a.35548","volume":"158A","author":"A Delahaye","year":"2012","unstructured":"Delahaye A, Khung-Savatovsky S, Aboura A et al (2012) Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Am J Med Genet A 158A:2430\u20132438","journal-title":"Am J Med Genet A"},{"key":"7794_CR47","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1002\/ajmg.a.35416","volume":"158A","author":"E Cellini","year":"2012","unstructured":"Cellini E, Disciglio V, Novara F et al (2012) Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. Am J Med Genet A 158A:1793\u20131797","journal-title":"Am J Med Genet A"},{"key":"7794_CR48","doi-asserted-by":"crossref","first-page":"4877","DOI":"10.1172\/JCI75109","volume":"124","author":"CR French","year":"2014","unstructured":"French CR, Seshadri S, Destefano AL et al (2014) Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest 124:4877\u20134881","journal-title":"J Clin Invest"},{"key":"7794_CR49","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s00401-009-0501-8","volume":"118","author":"T Revesz","year":"2009","unstructured":"Revesz T, Holton JL, Lashley T et al (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol 118:115\u2013130","journal-title":"Acta Neuropathol"},{"key":"7794_CR50","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.2741\/4173","volume":"18","author":"G Fede Di","year":"2013","unstructured":"Di Fede G, Giaccone G, Tagliavini F (2013) Hereditary and sporadic beta-amyloidoses. Front Biosci (Landmark Ed) 18:1202\u20131226","journal-title":"Front Biosci (Landmark Ed)"},{"key":"7794_CR51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3988\/jcn.2011.7.1.1","volume":"7","author":"A Biffi","year":"2011","unstructured":"Biffi A, Greenberg SM (2011) Cerebral amyloid angiopathy: a systematic review. J Clin Neurol 7:1\u20139","journal-title":"J Clin Neurol"},{"key":"7794_CR52","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1212\/WNL.0b013e3181dad605","volume":"74","author":"J Linn","year":"2010","unstructured":"Linn J, Halpin A, Demaerel P et al (2010) Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. Neurology 74:1346\u20131350","journal-title":"Neurology"},{"key":"7794_CR53","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S1474-4422(09)70013-4","volume":"8","author":"SM Greenberg","year":"2009","unstructured":"Greenberg SM, Vernooij MW, Cordonnier C et al (2009) Cerebral microbleeds: a guide to detection and interpretation. Lancet Neurol 8:165\u2013174","journal-title":"Lancet Neurol"},{"key":"7794_CR54","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1001\/archneur.64.3.431","volume":"64","author":"BJ Bacskai","year":"2007","unstructured":"Bacskai BJ, Frosch MP, Freeman SH et al (2007) Molecular imaging with Pittsburgh Compound B confirmed at autopsy: a case report. Arch Neurol 64:431\u2013434","journal-title":"Arch Neurol"},{"key":"7794_CR55","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/jcbfm.2014.43","volume":"34","author":"J-C Baron","year":"2014","unstructured":"Baron J-C, Farid K, Dolan E et al (2014) Diagnostic utility of amyloid PET in cerebral amyloid angiopathy-related symptomatic intracerebral hemorrhage. J Cereb Blood Flow Metab 34:753\u2013758","journal-title":"J Cereb Blood Flow Metab"},{"key":"7794_CR56","author":"K Rannikm\u00e4e","year":"2015","unstructured":"Rannikm\u00e4e K, Davies G, Thomson PA et al (2015) Common variation in COL4A1\/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology. doi: 10.1212\/WNL.0000000000001309","journal-title":"Neurology"},{"key":"7794_CR57","doi-asserted-by":"crossref","first-page":"3384","DOI":"10.1093\/brain\/awr252","volume":"134","author":"H Schmidt","year":"2011","unstructured":"Schmidt H, Zeginigg M, Wiltgen M et al (2011) Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain 134:3384\u20133397","journal-title":"Brain"},{"key":"7794_CR58","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1242\/dev.00999","volume":"131","author":"C Oka","year":"2004","unstructured":"Oka C, Tsujimoto R, Kajikawa M et al (2004) HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. Development 131:1041\u20131053","journal-title":"Development"},{"key":"7794_CR59","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1093\/hmg\/ddr063","volume":"20","author":"A Shiga","year":"2011","unstructured":"Shiga A, Nozaki H, Yokoseki A et al (2011) Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-1 via cleavage of proTGF-\u00a01. Hum Mol Genet 20:1800\u20131810","journal-title":"Hum Mol Genet"},{"key":"7794_CR60","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.cardiores.2007.02.008","volume":"74","author":"M Ruiz-Ortega","year":"2007","unstructured":"Ruiz-Ortega M, Rodr\u00edguez-Vita J, Sanchez-Lopez E et al (2007) TGF-beta signaling in vascular fibrosis. Cardiovasc Res 74:196\u2013206","journal-title":"Cardiovasc Res"},{"key":"7794_CR61","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1007\/s00415-013-7224-4","volume":"261","author":"B Gunda","year":"2014","unstructured":"Gunda B, Mine M, Kov\u00e1cs T et al (2014) COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. J Neurol 261:500\u2013503","journal-title":"J Neurol"},{"key":"7794_CR62","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.neurobiolaging.2007.07.015","volume":"30","author":"AJ Farrall","year":"2009","unstructured":"Farrall AJ, Wardlaw JM (2009) Blood-brain barrier: ageing and microvascular disease\u2013\u2013systematic review and meta-analysis. Neurobiol Aging 30:337\u2013352","journal-title":"Neurobiol Aging"},{"key":"7794_CR63","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.cell.2009.03.045","volume":"137","author":"R Kopan","year":"2009","unstructured":"Kopan R, Ilagan MXG (2009) The canonical Notch signaling pathway: unfolding the activation mechanism. Cell 137:216\u2013233","journal-title":"Cell"},{"key":"7794_CR64","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1016\/S0140-6736(97)08083-5","volume":"350","author":"A Joutel","year":"1997","unstructured":"Joutel A, Vahedi K, Corpechot C et al (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350:1511\u20131515","journal-title":"Lancet"},{"key":"7794_CR65","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1002\/humu.22432","volume":"34","author":"JW Rutten","year":"2013","unstructured":"Rutten JW, Boon EMJ, Liem MK et al (2013) Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. Hum Mutat 34:1486\u20131489","journal-title":"Hum Mutat"},{"key":"7794_CR66","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/S0002-9440(10)63824-2","volume":"162","author":"MM Ruchoux","year":"2003","unstructured":"Ruchoux MM, Domenga V, Brulin P et al (2003) Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am J Pathol 162:329\u2013342","journal-title":"Am J Pathol"},{"key":"7794_CR67","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1172\/JCI8047","volume":"105","author":"A Joutel","year":"2000","unstructured":"Joutel A, Andreux F, Gaulis S et al (2000) The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 105:597\u2013605","journal-title":"J Clin Invest"},{"key":"7794_CR68","doi-asserted-by":"crossref","first-page":"3256","DOI":"10.1093\/hmg\/ddr237","volume":"20","author":"M Duering","year":"2011","unstructured":"Duering M, Karpinska A, Rosner S et al (2011) Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis. Hum Mol Genet 20:3256\u20133265","journal-title":"Hum Mol Genet"},{"key":"7794_CR69","doi-asserted-by":"crossref","first-page":"E128","DOI":"10.1073\/pnas.1101964108","volume":"108","author":"JF Arboleda-Velasquez","year":"2011","unstructured":"Arboleda-Velasquez JF, Manent J, Lee JH et al (2011) Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease. Proc Natl Acad Sci 108:E128\u2013E135","journal-title":"Proc Natl Acad Sci"},{"key":"7794_CR70","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1093\/brain\/awt092","volume":"136","author":"M Monet-Lepr\u00eatre","year":"2013","unstructured":"Monet-Lepr\u00eatre M, Haddad I, Baron-Menguy C et al (2013) Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. Brain 136:1830\u20131845","journal-title":"Brain"},{"key":"7794_CR71","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/nature12481","volume":"501","author":"M Jucker","year":"2013","unstructured":"Jucker M, Walker LC (2013) Self-propagation of pathogenic protein aggregates in neurodegenerative diseases. Nature 501:45\u201351","journal-title":"Nature"},{"key":"7794_CR72","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s40478-014-0096-8","volume":"2","author":"J Kast","year":"2014","unstructured":"Kast J, Hanecker P, Beaufort N et al (2014) Sequestration of latent TGF-\u03b2 binding protein 1 into CADASIL-related Notch3-ECD deposits. Acta Neuropathol Commun 2:96","journal-title":"Acta Neuropathol Commun"},{"key":"7794_CR73","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","volume":"42","author":"SB Ng","year":"2010","unstructured":"Ng SB, Buckingham KJ, Lee C et al (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30\u201335","journal-title":"Nat Genet"},{"key":"7794_CR74","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nrg3555","volume":"14","author":"KM Boycott","year":"2013","unstructured":"Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14:681\u2013691","journal-title":"Nat Rev Genet"},{"key":"7794_CR75","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1093\/brain\/awl360","volume":"130","author":"WC Low","year":"2007","unstructured":"Low WC, Junna M, B\u00f6rjesson-Hanson A et al (2007) Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain 130:357\u2013367","journal-title":"Brain"},{"key":"7794_CR76","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/ane.12284","volume":"131","author":"S Nannucci","year":"2015","unstructured":"Nannucci S, Pescini F, Bertaccini B et al (2015) Clinical, familial, and neuroimaging features of CADASIL-like patients. Acta Neurol Scand 131:30\u201336","journal-title":"Acta Neurol Scand"},{"key":"7794_CR77","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nrneurol.2012.148","volume":"8","author":"J-N Foo","year":"2012","unstructured":"Foo J-N, Liu J-J, Tan E-K (2012) Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol 8:508\u2013517","journal-title":"Nat Rev Neurol"},{"key":"7794_CR78","author":"T Vrijenhoek","year":"2015","unstructured":"Vrijenhoek T, Kraaijeveld K, Elferink M et al (2015) Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. doi: 10.1038\/ejhg.2014.279","journal-title":"Eur J Hum Genet"},{"key":"7794_CR79","unstructured":"Genomics England Ltd Genomics England|100,000 genomes project. http:\/\/www.genomicsengland.co.uk\/ . Accessed 3 May 2015"},{"key":"7794_CR80","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745\u2013755","journal-title":"Nat Rev Genet"},{"key":"7794_CR81","first-page":"1","volume":"44","author":"R Guerreiro","year":"2014","unstructured":"Guerreiro R, Br\u00e1s J, Hardy J, Singleton A (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet 44:1\u20137","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7794-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-015-7794-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7794-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T17:33:22Z","timestamp":1652204002000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-015-7794-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,3]]},"references-count":81,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["7794"],"URL":"https:\/\/doi.org\/10.1007\/s00415-015-7794-4","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,3]]}}}