{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T19:17:07Z","timestamp":1778786227459,"version":"3.51.4"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100004609","name":"Foundation of Henan Educational Committee","doi-asserted-by":"publisher","award":["222102310197"],"award-info":[{"award-number":["222102310197"]}],"id":[{"id":"10.13039\/501100004609","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s10072-022-06454-5","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T23:03:44Z","timestamp":1666047824000},"page":"639-647","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease"],"prefix":"10.1007","volume":"44","author":[{"given":"Zheng","family":"He","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yichi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunmao","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4226-447X","authenticated-orcid":false,"given":"Yanliang","family":"Niu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"issue":"9","key":"6454_CR1","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1111\/cns.12722","volume":"23","author":"I Di Donato","year":"2017","unstructured":"Di Donato I, Bianchi S, Gallus GN, Cerase A, Taglia I, Pescini F, Nannucci S, Battisti C, Inzitari D, Pantoni L, Zini A, Federico A, Dotti MT (2017) Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. CNS Neurosci Ther 23(9):759\u2013765. https:\/\/doi.org\/10.1111\/cns.12722","journal-title":"CNS Neurosci Ther"},{"key":"6454_CR2","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1016\/j.jns.2018.11.008","volume":"396","author":"S Favaretto","year":"2019","unstructured":"Favaretto S, Margoni M, Salviati L, Pianese L, Manara R, Baracchini C (2019) A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: are we pointing towards a disease spectrum? J Neurol Sci 396:108\u2013111. https:\/\/doi.org\/10.1016\/j.jns.2018.11.008","journal-title":"J Neurol Sci"},{"key":"6454_CR3","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12473","author":"J Ito","year":"2018","unstructured":"Ito J, Nozaki H, Toyoshima Y, Abe T, Sato A, Hashidate H, Igarashi S, Onodera O, Takahashi H, Kakita A (2018) Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation. Neuropathology. https:\/\/doi.org\/10.1111\/neup.12473","journal-title":"Neuropathology"},{"issue":"1\u20132","key":"6454_CR4","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.jns.2015.11.029","volume":"359","author":"HG Kang","year":"2015","unstructured":"Kang HG, Kim JS (2015) Intracranial arterial disease in CADASIL patients. J Neurol Sci 359(1\u20132):347\u2013350. https:\/\/doi.org\/10.1016\/j.jns.2015.11.029","journal-title":"J Neurol Sci"},{"issue":"3","key":"6454_CR5","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46(3):310\u2013315. https:\/\/doi.org\/10.1038\/ng.2892","journal-title":"Nat Genet"},{"issue":"7","key":"6454_CR6","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1161\/STROKEAHA.118.021283","volume":"49","author":"YC Lee","year":"2018","unstructured":"Lee YC, Chung CP, Chao NC, Fuh JL, Chang FC, Soong BW, Liao YC (2018) Characterization of heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease. Stroke 49(7):1593\u20131601. https:\/\/doi.org\/10.1161\/STROKEAHA.118.021283","journal-title":"Stroke"},{"issue":"1","key":"6454_CR7","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.jmoldx.2016.10.002","volume":"19","author":"MM Li","year":"2017","unstructured":"Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN (2017) Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn 19(1):4\u201323. https:\/\/doi.org\/10.1016\/j.jmoldx.2016.10.002","journal-title":"J Mol Diagn"},{"issue":"6","key":"6454_CR8","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1111\/ene.14183","volume":"27","author":"M Mancuso","year":"2020","unstructured":"Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, LesnikOberstein S, Tournier-Lasserve E, Markus HS (2020) Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol 27(6):909\u2013927. https:\/\/doi.org\/10.1111\/ene.14183","journal-title":"Eur J Neurol"},{"issue":"21","key":"6454_CR9","doi-asserted-by":"publisher","first-page":"1964","DOI":"10.1212\/WNL.0000000000002694","volume":"86","author":"H Nozaki","year":"2016","unstructured":"Nozaki H, Kato T, Nihonmatsu M, Saito Y, Mizuta I, Noda T, Koike R, Miyazaki K, Kaito M, Ito S, Makino M, Koyama A, Shiga A, Uemura M, Sekine Y, Murakami A, Moritani S, Hara K, Yokoseki A, Kuwano R, Endo N, Momotsu T, Yoshida M, Nishizawa M, Mizuno T, Onodera O (2016) Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. Neurology 86(21):1964\u20131974. https:\/\/doi.org\/10.1212\/WNL.0000000000002694","journal-title":"Neurology"},{"issue":"5","key":"6454_CR10","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1212\/WNL.0000000000001803","volume":"85","author":"H Nozaki","year":"2015","unstructured":"Nozaki H, Sekine Y, Fukutake T, Nishimoto Y, Shimoe Y, Shirata A, Yanagawa S, Hirayama M, Tamura M, Nishizawa M, Onodera O (2015) Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology 85(5):459\u2013463. https:\/\/doi.org\/10.1212\/WNL.0000000000001803","journal-title":"Neurology"},{"issue":"8","key":"6454_CR11","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1007\/s10072-018-3294-5","volume":"39","author":"AR Pati","year":"2018","unstructured":"Pati AR, Battisti C, Taglia I, Galluzzi P, Bianchi M, Federico A (2018) A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up. Neurol Sci 39(8):1479\u20131481. https:\/\/doi.org\/10.1007\/s10072-018-3294-5","journal-title":"Neurol Sci"},{"issue":"15","key":"6454_CR12","doi-asserted-by":"publisher","first-page":"e166","DOI":"10.1212\/WNL.0000000000002572","volume":"86","author":"B Roeben","year":"2016","unstructured":"Roeben B, Uhrig S, Bender B, Synofzik M (2016) Teaching NeuroImages: when alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL. Neurology 86(15):e166\u2013e167. https:\/\/doi.org\/10.1212\/WNL.0000000000002572","journal-title":"Neurology"},{"issue":"Suppl A100","key":"6454_CR13","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/j.1747-4949.2012.00932.x","volume":"8","author":"N Shobha","year":"2013","unstructured":"Shobha N, Fang J, Hill MD (2013) Do lacunar strokes benefit from thrombolysis? Evidence from the Registry of the Canadian Stroke Network. Int J Stroke 8(Suppl A100):45\u201349. https:\/\/doi.org\/10.1111\/j.1747-4949.2012.00932.x","journal-title":"Int J Stroke"},{"issue":"5","key":"6454_CR14","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1111\/bpa.12181","volume":"24","author":"S Tikka","year":"2014","unstructured":"Tikka S, Baumann M, Siitonen M, Pasanen P, Poyhonen M, Myllykangas L, Viitanen M, Fukutake T, Cognat E, Joutel A, Kalimo H (2014) CADASIL and CARASIL. Brain Pathol 24(5):525\u2013544. https:\/\/doi.org\/10.1111\/bpa.12181","journal-title":"Brain Pathol"},{"issue":"3","key":"6454_CR15","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/nsmb.2013","volume":"18","author":"L Truebestein","year":"2011","unstructured":"Truebestein L, Tennstaedt A, Monig T, Krojer T, Canellas F, Kaiser M, Clausen T, Ehrmann M (2011) Substrate-induced remodeling of the active site regulates human HTRA1 activity. Nat Struct Mol Biol 18(3):386\u2013388. https:\/\/doi.org\/10.1038\/nsmb.2013","journal-title":"Nat Struct Mol Biol"},{"issue":"Pt 8","key":"6454_CR16","doi-asserted-by":"publisher","first-page":"2347","DOI":"10.1093\/brain\/awv155","volume":"138","author":"E Verdura","year":"2015","unstructured":"Verdura E, Herve D, Scharrer E, Amador Mdel M, Guyant-Marechal L, Philippi A, Corlobe A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E (2015) Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain 138(Pt 8):2347\u20132358. https:\/\/doi.org\/10.1093\/brain\/awv155","journal-title":"Brain"},{"issue":"5","key":"6454_CR17","doi-asserted-by":"publisher","first-page":"e6632","DOI":"10.1590\/1414-431X20176632","volume":"51","author":"X Wu","year":"2018","unstructured":"Wu X, Li C, Mao J, Li L, Liu Y, Hou Y (2018) Heterozygous HTRA1 missense mutation in CADASIL-like family disease. Braz J Med Biol Res 51(5):e6632. https:\/\/doi.org\/10.1590\/1414-431X20176632","journal-title":"Braz J Med Biol Res"},{"issue":"3","key":"6454_CR18","doi-asserted-by":"publisher","first-page":"e434","DOI":"10.1212\/NXG.0000000000000434","volume":"6","author":"G Xiromerisiou","year":"2020","unstructured":"Xiromerisiou G, Marogianni C, Dadouli K, Zompola C, Georgouli D, Provatas A, Theodorou A, Zervas P, Nikolaidou C, Stergiou S, Ntellas P, Sokratous M, Stathis P, Paraskevas GP, Bonakis A, Voumvourakis K, Hadjichristodoulou C, Hadjigeorgiou GM, Tsivgoulis G (2020) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: genotype-phenotype correlations of all published cases. Neurol Genet 6(3):e434. https:\/\/doi.org\/10.1212\/NXG.0000000000000434","journal-title":"Neurol Genet"},{"issue":"3","key":"6454_CR19","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/s10072-017-3231-z","volume":"39","author":"WY Zhang","year":"2018","unstructured":"Zhang WY, Xie F, Lu PL (2018) Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families. Neurol Sci 39(3):497\u2013501. https:\/\/doi.org\/10.1007\/s10072-017-3231-z","journal-title":"Neurol Sci"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06454-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-022-06454-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06454-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,16]],"date-time":"2023-01-16T07:12:18Z","timestamp":1673853138000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-022-06454-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,18]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["6454"],"URL":"https:\/\/doi.org\/10.1007\/s10072-022-06454-5","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,18]]},"assertion":[{"value":"20 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 October 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 October 2022","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 study was approved by the Research Ethics Committees of the Fifth Affiliated Hospital of Zhengzhou University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All patients and their family members provided written informed consent for participation in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing of interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}