{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T04:10:49Z","timestamp":1775707849805,"version":"3.50.1"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"the Key Social Development Project of Jinhua Science and Technology Bureau","award":["2020-3-050"],"award-info":[{"award-number":["2020-3-050"]}]},{"name":"the Key Social Development Project of Jinhua Science and Technology Bureau","award":["2020-3-050"],"award-info":[{"award-number":["2020-3-050"]}]},{"name":"the Key Social Development Project of Jinhua Science and Technology Bureau","award":["2020-3-050"],"award-info":[{"award-number":["2020-3-050"]}]},{"name":"the Key Social Development Project of Jinhua Science and Technology Bureau","award":["2020-3-050"],"award-info":[{"award-number":["2020-3-050"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-026-00899-y","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T02:56:30Z","timestamp":1775703390000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous NOTCH3 c.3373G\u2009>\u2009A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype\u2013phenotype spectrum"],"prefix":"10.1007","volume":"27","author":[{"given":"Yong","family":"Luo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,4,9]]},"reference":[{"issue":"6602","key":"899_CR1","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1038\/383707a0","volume":"383","author":"A Joutel","year":"1996","unstructured":"Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P et al (1996) NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383(6602):707\u2013710. https:\/\/doi.org\/10.1038\/383707a0","journal-title":"Nature"},{"issue":"7","key":"899_CR2","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/S1474-4422(09)70127-9","volume":"8","author":"H Chabriat","year":"2009","unstructured":"Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) CADASIL Lancet Neurol 8(7):643\u2013653. https:\/\/doi.org\/10.1016\/S1474-4422(09)70127-9","journal-title":"CADASIL Lancet Neurol"},{"issue":"8980","key":"899_CR3","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1016\/S0140-6736(95)91598-6","volume":"346","author":"H Chabriat","year":"1995","unstructured":"Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al (1995) Clinical spectrum of CADASIL: a study of 7 families. Lancet 346(8980):934\u2013939. https:\/\/doi.org\/10.1016\/S0140-6736(95)91598-6","journal-title":"Lancet"},{"issue":"1","key":"899_CR4","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1161\/hs0102.100885","volume":"33","author":"M Dichgans","year":"2002","unstructured":"Dichgans M, Holtmannsp\u00f6tter M, Herzog J, Peters N, Bergmann M, Yousry TA (2002) Cerebral microbleeds in CADASIL: a gradient-echo MRI and autopsy study. Stroke 33(1):67\u201371. https:\/\/doi.org\/10.1161\/hs0102.100885","journal-title":"Stroke"},{"issue":"8","key":"899_CR5","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1212\/WNL.59.8.1134","volume":"59","author":"HS Markus","year":"2002","unstructured":"Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH et al (2002) Diagnostic strategies in CADASIL. Neurology 59(8):1134\u20131138. https:\/\/doi.org\/10.1212\/WNL.59.8.1134","journal-title":"Neurology"},{"issue":"3","key":"899_CR6","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1161\/STROKEAHA.114.007472","volume":"46","author":"FA Wollenweber","year":"2015","unstructured":"Wollenweber FA, Hanecker P, Bayer-Karpinska A, Malik R, B\u00e4zner H, Moreton F et al (2015) Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. Stroke 46(3):786\u2013792. https:\/\/doi.org\/10.1161\/STROKEAHA.114.007472","journal-title":"Stroke"},{"issue":"4","key":"899_CR7","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1212\/01.WNL.0000113762.14459.E8","volume":"62","author":"C Opherk","year":"2004","unstructured":"Opherk C, Peters N, Holtmannsp\u00f6tter M, Gschwendtner A, M\u00fcller-Myhsok B, Dichgans M (2004) CADASIL mutations and clinical phenotype: evidence for genotype-phenotype correlation from 200 families. Neurology 62(4):640\u2013643. https:\/\/doi.org\/10.1212\/01.WNL.0000113762.14459.E8","journal-title":"Neurology"},{"key":"899_CR8","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1186\/s12883-020-01656-1","volume":"20","author":"R He","year":"2020","unstructured":"He R, Wu Y, Zhang Y, Zhao X, Li H, Wang Z et al (2020) Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report. BMC Neurol 20:72. https:\/\/doi.org\/10.1186\/s12883-020-01656-1","journal-title":"BMC Neurol"},{"key":"899_CR9","doi-asserted-by":"publisher","first-page":"1391040","DOI":"10.3389\/fnmol.2024.1391040","volume":"17","author":"Z Gong","year":"2024","unstructured":"Gong Z, Wang W, Zhao Y, Wang Y, Sun R, Zhang H et al (2024) Analysis of the pathogenicity and pathological characteristics of NOTCH3 cysteine-sparing mutations in vitro and in vivo models. Front Mol Neurosci 17:1391040. https:\/\/doi.org\/10.3389\/fnmol.2024.1391040","journal-title":"Front Mol Neurosci"},{"issue":"16","key":"899_CR10","doi-asserted-by":"publisher","first-page":"8796","DOI":"10.3390\/ijms25168796","volume":"25","author":"Y Cao","year":"2024","unstructured":"Cao Y, Zhang DD, Han F et al (2024) Phenotypes associated with NOTCH3 cysteine-sparing mutations: a systematic review. Int J Mol Sci 25(16):8796. https:\/\/doi.org\/10.3390\/ijms25168796","journal-title":"Int J Mol Sci"},{"key":"899_CR11","doi-asserted-by":"publisher","first-page":"105297","DOI":"10.1016\/j.ebiom.2024.105297","volume":"107","author":"P Iruzubieta","year":"2024","unstructured":"Iruzubieta P, de la Fuente JL, Rodr\u00edguez-Antig\u00fcedad A et al (2024) Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine 107:105297. https:\/\/doi.org\/10.1016\/j.ebiom.2024.105297","journal-title":"EBioMedicine"},{"key":"899_CR12","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.jns.2016.05.061","volume":"367","author":"H Abou Al-Shaar","year":"2016","unstructured":"Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S (2016) Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family. J Neurol Sci 367:239\u2013243. https:\/\/doi.org\/10.1016\/j.jns.2016.05.061","journal-title":"J Neurol Sci"},{"key":"899_CR13","doi-asserted-by":"publisher","first-page":"100186","DOI":"10.1016\/j.nerep.2023.100186","volume":"4","author":"KM Money","year":"2023","unstructured":"Money KM, Cronin J, Guimaraes-Young A, Carlson A, Lovell MA, Matthews E et al (2023) CADASIL progression after neurologic infectious insults: case report of a new pathogenic NOTCH3 mutation. Neuroimmunol Rep 4:100186. https:\/\/doi.org\/10.1016\/j.nerep.2023.100186","journal-title":"Neuroimmunol Rep"},{"issue":"1","key":"899_CR14","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1111\/ene.14534","volume":"28","author":"FC Moreton","year":"2021","unstructured":"Moreton FC, Cullen B, Dickie DA et al (2021) Brain imaging factors associated with progression of subcortical hyperintensities in CADASIL over 2-year follow-up. Eur J Neurol 28(1):220\u2013228. https:\/\/doi.org\/10.1111\/ene.14534","journal-title":"Eur J Neurol"},{"issue":"10","key":"899_CR15","doi-asserted-by":"publisher","first-page":"3133","DOI":"10.1161\/STROKEAHA.122.039325","volume":"53","author":"RJ Hack","year":"2022","unstructured":"Hack RJ, Cerfontaine MN, Gravesteijn G et al (2022) Effect of NOTCH3 EGFr group, sex, and cardiovascular risk factors on CADASIL outcomes. Stroke 53(10):3133\u20133144. https:\/\/doi.org\/10.1161\/STROKEAHA.122.039325","journal-title":"Stroke"},{"key":"899_CR16","doi-asserted-by":"publisher","first-page":"100186","DOI":"10.1016\/j.cccb.2023.100186","volume":"5","author":"AR Silva","year":"2023","unstructured":"Silva AR, Santos I, Fernandes C et al (2023) Socio-emotional deficits in cerebral small vessel disease: comparison of sporadic CSVD and CADASIL. Cereb Circ Cogn Behav 5:100186. https:\/\/doi.org\/10.1016\/j.cccb.2023.100186","journal-title":"Cereb Circ Cogn Behav"},{"key":"899_CR17","doi-asserted-by":"publisher","first-page":"100170","DOI":"10.1016\/j.cccb.2023.100170","volume":"5","author":"B Anisetti","year":"2023","unstructured":"Anisetti B, Greco E, Stojadinovic E et al (2023) Novel grading system for CADASIL severity: a multicenter cross-sectional study. Cereb Circ Cogn Behav 5:100170. https:\/\/doi.org\/10.1016\/j.cccb.2023.100170","journal-title":"Cereb Circ Cogn Behav"},{"issue":"12","key":"899_CR18","doi-asserted-by":"publisher","first-page":"2934","DOI":"10.1007\/s00415-018-9072-8","volume":"265","author":"A Bersano","year":"2018","unstructured":"Bersano A, Bedini G, Markus HS et al (2018) Clinical and neuroimaging features in CADASIL diagnosis. J Neurol 265(12):2934\u20132943. https:\/\/doi.org\/10.1007\/s00415-018-9072-8","journal-title":"J Neurol"},{"key":"899_CR19","doi-asserted-by":"publisher","first-page":"107239","DOI":"10.1016\/j.clineuro.2022.107239","volume":"216","author":"E Ferrante","year":"2022","unstructured":"Ferrante E, Trimboli M, Erminio C et al (2022) Acute confusional migraine in CADASIL: case report and review. Clin Neurol Neurosurg 216:107239. https:\/\/doi.org\/10.1016\/j.clineuro.2022.107239","journal-title":"Clin Neurol Neurosurg"},{"issue":"7","key":"899_CR20","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1016\/S1474-4422(13)70107-8","volume":"12","author":"JM Furman","year":"2013","unstructured":"Furman JM, Marcus DA, Balaban CD (2013) Vestibular migraine: clinical aspects and pathophysiology. Lancet Neurol 12(7):706\u2013715. https:\/\/doi.org\/10.1016\/S1474-4422(13)70107-8","journal-title":"Lancet Neurol"},{"issue":"8","key":"899_CR21","doi-asserted-by":"publisher","first-page":"4575","DOI":"10.1007\/s00415-022-11261-1","volume":"269","author":"G Gailani","year":"2022","unstructured":"Gailani G, Robertson NP (2022) Clinical patterns in CADASIL. J Neurol 269(8):4575\u20134577. https:\/\/doi.org\/10.1007\/s00415-022-11261-1","journal-title":"J Neurol"},{"issue":"5","key":"899_CR22","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1111\/j.1600-0404.2009.01219.x","volume":"121","author":"C Sundal","year":"2010","unstructured":"Sundal C, Ekholm S, Andersen O (2010) White matter disorders with autosomal dominant heredity: case studies. Acta Neurol Scand 121(5):328\u2013337. https:\/\/doi.org\/10.1111\/j.1600-0404.2009.01219.x","journal-title":"Acta Neurol Scand"},{"issue":"10","key":"899_CR23","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s11916-016-0584-6","volume":"20","author":"S Zhu","year":"2016","unstructured":"Zhu S, Nahas SJ (2016) CADASIL: imaging characteristics and clinical correlation. Curr Pain Headache Rep 20(10):57. https:\/\/doi.org\/10.1007\/s11916-016-0584-6","journal-title":"Curr Pain Headache Rep"},{"issue":"5","key":"899_CR24","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and AMP. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"3","key":"899_CR25","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1111\/cge.12131","volume":"84","author":"FS Alkuraya","year":"2013","unstructured":"Alkuraya FS (2013) Impact of new genomic tools in consanguineous populations. Clin Genet 84(3):203\u2013208. https:\/\/doi.org\/10.1111\/cge.12131","journal-title":"Clin Genet"},{"issue":"12","key":"899_CR26","doi-asserted-by":"publisher","first-page":"3754","DOI":"10.1161\/STR.0000000000000046","volume":"45","author":"JF Meschia","year":"2014","unstructured":"Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S et al (2014) Guidelines for the primary prevention of stroke. Stroke 45(12):3754\u20133832. https:\/\/doi.org\/10.1161\/STR.0000000000000046","journal-title":"Stroke"},{"issue":"5","key":"899_CR27","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1002\/ana.410440506","volume":"44","author":"M Dichgans","year":"1998","unstructured":"Dichgans M, Mayer M, Uttner I, Br\u00fcning R, M\u00fcller-H\u00f6cker J, Rungger G et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44(5):731\u2013739. https:\/\/doi.org\/10.1002\/ana.410440506","journal-title":"Ann Neurol"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00899-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-026-00899-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00899-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T02:56:32Z","timestamp":1775703392000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-026-00899-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,9]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["899"],"URL":"https:\/\/doi.org\/10.1007\/s10048-026-00899-y","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,9]]},"assertion":[{"value":"19 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This was a study undertaken in compliance with the Declaration of Helsinki. The Institutional Ethics Committee of Jinhua Municipal Central Hospital provided approval for this study (approval number: 20240302). Written informed consent was obtained for genetic testing and to publish anonymized clinical information and images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Clinical trial number"}},{"value":"The authors declare that they have no conflict of interest.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The authors declare no competing interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"30"}}