{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:27:46Z","timestamp":1786980466454,"version":"build-2736575974"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,7,19]],"date-time":"2025-07-19T00:00:00Z","timestamp":1752883200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,7,19]],"date-time":"2025-07-19T00:00:00Z","timestamp":1752883200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002911","name":"Universidad Complutense de Madrid","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002911","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and compensatory collateral vessel formation, producing a characteristic \u201cpuff of smoke\u201d angiographic appearance. Genetic predisposition, particularly involving the RNF213 gene, plays a central role. We report a 48-year\u2010old Indian woman with type 2 diabetes, arterial hypertension, and a prior transient ischemic attack who presented with intermittent bilateral upper limb paresthesia. Imaging revealed bilateral supraclinoid internal carotid artery stenosis (Suzuki stage III). Genetic testing identified a heterozygous RNF213 missense variant (Thr554Ile, rs766831703), which is extremely rare in global databases and predicted to be deleterious by multiple in silico tools. This variant has not been previously described in association with Moyamoya disease. The patient underwent bilateral superficial temporal artery to middle cerebral artery bypass, achieving sustained clinical improvement without recurrent events over two years.<\/jats:p>","DOI":"10.1007\/s10048-025-00836-5","type":"journal-article","created":{"date-parts":[[2025,7,19]],"date-time":"2025-07-19T07:33:45Z","timestamp":1752910425000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)"],"prefix":"10.1007","volume":"26","author":[{"given":"Ritwick","family":"Mondal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shramana","family":"Deb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmalya","family":"Ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukalyan","family":"Purakayastha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Tiwari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Benito-Le\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayanta","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,19]]},"reference":[{"issue":"7","key":"836_CR1","doi-asserted-by":"publisher","first-page":"307","DOI":"10.2176\/jns-nmc.2022-0072","volume":"62","author":"S Kuroda","year":"2022","unstructured":"Kuroda S, Fujimura M, Takahashi J et al (2022) Diagnostic criteria for moyamoya disease - 2021 revised version. Neurol Med Chir (Tokyo) 62(7):307\u2013312","journal-title":"Neurol Med Chir (Tokyo)"},{"key":"836_CR2","doi-asserted-by":"crossref","unstructured":"Liu W, Hitomi T, Kobayashi H, Harada KH, Koizumi A (2012) Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations. Neurol Med-Chirurgica\u00a052(5):299\u2013303","DOI":"10.2176\/nmc.52.299"},{"issue":"1","key":"836_CR3","doi-asserted-by":"publisher","first-page":"e8","DOI":"10.1016\/j.jstrokecerebrovasdis.2016.09.035","volume":"26","author":"R Tashiro","year":"2017","unstructured":"Tashiro R, Fujimura M, Niizuma K et al (2017) De novo development of moyamoya disease in an adult female with a genetic variant of the RNF-213 gene: case report. J Stroke Cerebrovasc Dis 26(1):e8\u2013e11","journal-title":"J Stroke Cerebrovasc Dis"},{"issue":"5","key":"836_CR4","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 et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"1","key":"836_CR5","doi-asserted-by":"publisher","first-page":"2","DOI":"10.5853\/jos.2015.01627","volume":"18","author":"JS Kim","year":"2016","unstructured":"Kim JS (2016) Moyamoya disease: epidemiology, clinical features, and diagnosis. J Stroke 18(1):2\u201311","journal-title":"J Stroke"},{"issue":"11","key":"836_CR6","doi-asserted-by":"publisher","first-page":"1475","DOI":"10.1001\/archneur.55.11.1475","volume":"55","author":"LR Caplan","year":"1998","unstructured":"Caplan LR, Hennerici M (1998) Impaired clearance of emboli (washout) is an important link between hypoperfusion, embolism, and ischemic stroke. Arch Neurol 55(11):1475\u20131482","journal-title":"Arch Neurol"},{"key":"836_CR7","unstructured":"Vanderah TW, Gould, DJ (2016) Nolte\u2019s The human brain: An introduction to its functional anatomy (7th ed). Elsevier"},{"issue":"9","key":"836_CR8","doi-asserted-by":"publisher","first-page":"2054","DOI":"10.1016\/j.jstrokecerebrovasdis.2015.04.026","volume":"24","author":"Y Araki","year":"2015","unstructured":"Araki Y, Takagi Y, Fushimi Y et al (2015) Apparent diffusion coefficient and transient neurological deficit after revascularization surgery in moyamoya disease. J Stroke Cerebrovasc Dis 24(9):2054\u20132059","journal-title":"J Stroke Cerebrovasc Dis"},{"key":"836_CR9","doi-asserted-by":"crossref","unstructured":"Houkin K, Yoshimoto T, Kuroda S, Ishikawa T, Takahashi A, Abe H (1996) Angiographic analysis of moyamoya disease--how does moyamoya disease progress? Neurol Med-Chirurgica\u00a036(11):783\u2013787; discussion 8","DOI":"10.2176\/nmc.36.783"},{"issue":"10","key":"836_CR10","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1161\/01.STR.0000182256.32489.99","volume":"36","author":"S Kuroda","year":"2005","unstructured":"Kuroda S, Ishikawa T, Houkin K, Nanba R, Hokari M, Iwasaki Y (2005) Incidence and clinical features of disease progression in adult moyamoya disease. Stroke 36(10):2148\u20132153","journal-title":"Stroke"},{"issue":"10","key":"836_CR11","doi-asserted-by":"publisher","first-page":"2708","DOI":"10.1161\/STROKEAHA.119.024487","volume":"50","author":"ZW Liu","year":"2019","unstructured":"Liu ZW, Han C, Zhao F et al (2019) Collateral circulation in moyamoya disease: a new grading system. Stroke 50(10):2708\u20132715","journal-title":"Stroke"},{"issue":"5","key":"836_CR12","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.4103\/0028-3886.388102","volume":"71","author":"P Mailankody","year":"2023","unstructured":"Mailankody P, Pruthi N, Kulanthaivelu K et al (2023) Adult-onset ischemic moyamoya disease: reasoning and decision-making. Neurol India 71(5):1065\u20131067","journal-title":"Neurol India"},{"issue":"7","key":"836_CR13","doi-asserted-by":"publisher","first-page":"e364","DOI":"10.1161\/STR.0000000000000375","volume":"52","author":"DO Kleindorfer","year":"2021","unstructured":"Kleindorfer DO, Towfighi A, Chaturvedi S et al (2021) 2021 Guideline for the prevention of stroke in patients with stroke and transient ischemic attack: a guideline from the American Heart Association\/American Stroke Association. Stroke 52(7):e364\u2013e467","journal-title":"Stroke"},{"issue":"1","key":"836_CR14","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1177\/23969873221144089","volume":"8","author":"A Bersano","year":"2023","unstructured":"Bersano A, Khan N, Fuentes B et al (2023) European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN). Eur Stroke J 8(1):55\u201384","journal-title":"Eur Stroke J"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00836-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-025-00836-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00836-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:05:12Z","timestamp":1769400312000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-025-00836-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,19]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["836"],"URL":"https:\/\/doi.org\/10.1007\/s10048-025-00836-5","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,19]]},"assertion":[{"value":"15 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient participating in the study (consent for research).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"Dr. Ritwick Mondal (ritwickraw@gmail.com) reports no relevant disclosures.Dr. Shramana Deb (shramanadeb1039@gmail.com) reports no relevant disclosures.Dr. Nirmalya Ray (ray.nirmalya20@gmail.com) reports no relevant disclosures.Dr. Sukalyan Purakayastha (sukalyanp@gmail.com) reports no relevant disclosures.Dr. Mona Tiwari (drmonatiwari@gmail.com) reports no relevant disclosures.Dr. Juli\u00e1n Benito-Le\u00f3n (jbenitol67@gmail.com) reports no relevant disclosures.Dr. Jayanta Roy (jroyneuro01@gmail.com) reports no relevant disclosures.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->D<!--Emphasis Type='Bold' removed-->isclosures"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"54"}}