{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:32:14Z","timestamp":1787841134371,"version":"build-2784847793"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract:<\/jats:title>\n                  <jats:p>\n                    A 25-year-old patient with dysmorphic facies presented with tingling in both hands and a speech disorder that occurred for a few hours approximately once a month since the age of 12 years. A magnetic resonance angiography of the brain showed signs of a bilateral moyamoya phenomenon with distal carotid artery occlusions with significant collateral vessel formation and bilateral posterior cerebral artery occlusions. In addition, there was an extracranial, nonatherosclerotic carotid artery stenosis. Genetic testing identified a heterozygous\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    , loss-of-function variant in\n                    <jats:italic toggle=\"yes\">SETD5<\/jats:italic>\n                    , which was classified pathogenic according to the American College of Medical Genetics and Genomics criteria. This case report describes a newfound\n                    <jats:italic toggle=\"yes\">SETD5<\/jats:italic>\n                    pathogenic variant in a patient with moyamoya syndrome, but surprisingly without intellectual disability. Furthermore, our patient suffered from nonarteriosclerotic extracranial carotid artery stenosis, which is distinctly unusual in patients with moyamoya angiopathy. This raises the possibility that the occlusive vascular disease in patients with\n                    <jats:italic toggle=\"yes\">SETD5<\/jats:italic>\n                    variants may extend beyond the cerebrovascular circulation. In summary, this case presents a moyamoya patient with an unusual vascular feature which can be explained with the newfound\n                    <jats:italic toggle=\"yes\">SETD5<\/jats:italic>\n                    mutation variant.\n                  <\/jats:p>","DOI":"10.4103\/bc.bc_78_24","type":"journal-article","created":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T15:05:41Z","timestamp":1743692741000},"page":"183-186","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Moyamoya syndrome in a patient with pathogenic heterozygous variant in the SETD5 gene: A case report"],"prefix":"10.4103","volume":"12","author":[{"given":"Larissa","family":"Dams","sequence":"first","affiliation":[{"name":"Department of Neurology, Alfried Krupp Hospital, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"Centogene GmbH, Rostock, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Kraemer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Alfried Krupp Hospital, Essen, Germany"},{"name":"Department of Neurology, Medical Faculty, Heinrich Heine University D\u00fcsseldorf, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,4,3]]},"reference":[{"key":"R1-20260330","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1007\/s00415-019-09245-9","article-title":"Misdiagnoses and delay of diagnoses in Moyamoya angiopathy-a large Caucasian case series","volume":"266","author":"Graf","year":"2019","journal-title":"J Neurol"},{"key":"R2-20260330","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1590\/0100-3984.2021.0010","article-title":"Moyamoya disease and syndrome: A review","volume":"55","author":"Demartini","year":"2022","journal-title":"Radiol Bras"},{"key":"R3-20260330","first-page":"900","article-title":"Moyamoya disease in Southeast Asians:Genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature","volume":"79","author":"Strunk","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R4-20260330","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s12975-021-00940-2","article-title":"The genetic basis of Moyamoya disease","volume":"13","author":"Mertens","year":"2022","journal-title":"Transl Stroke Res"},{"key":"R5-20260330","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.wneu.2023.01.005","article-title":"Moyamoya angiopathy and 15q11.2 gene deletion syndrome","volume":"172","author":"Demartini","year":"2023","journal-title":"World Neurosurg"},{"key":"R6-20260330","first-page":"86","article-title":"Adult Moyamoya disease and Moyamoya syndrome: What is new?","volume":"14","author":"Uchiyama","year":"2024","journal-title":"Cerebrovasc Dis Extra"},{"key":"R7-20260330","doi-asserted-by":"crossref","first-page":"101745","DOI":"10.1016\/j.bas.2023.101745","article-title":"Whole-exome sequencing in Moyamoya patients of Northern-European origin identifies gene variants involved in nitric oxide metabolism: A pilot study","volume":"3","author":"Wiedmann","year":"2023","journal-title":"Brain Spine"},{"key":"R8-20260330","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1038\/s41593-018-0266-2","article-title":"Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition","volume":"21","author":"Deliu","year":"2018","journal-title":"Nat Neurosci"},{"key":"R9-20260330","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/s41436-019-0639-2","article-title":"The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to Moyamoya angiopathy","volume":"22","author":"Pinard","year":"2020","journal-title":"Genet Med"},{"key":"R10-20260330","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat Genet"},{"key":"R11-20260330","doi-asserted-by":"crossref","first-page":"4932","DOI":"10.1038\/s41467-020-18723-y","article-title":"Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders","volume":"11","author":"Wang","year":"2020","journal-title":"Nat Commun"},{"key":"R12-20260330","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3390\/ijms24010167","article-title":"CRISPR\/Cas9-induced inactivation of the autism-risk gene setd5 leads to social impairments in zebrafish","volume":"24","author":"Gabellini","year":"2022","journal-title":"Int J Mol Sci"},{"key":"R13-20260330","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1111\/ene.14754","article-title":"Cutaneous manifestations in Moyamoya angiopathy: A review","volume":"28","author":"Mitri","year":"2021","journal-title":"Eur J Neurol"},{"key":"R14-20260330","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1007\/s00439-024-02685-y","article-title":"FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells","volume":"143","author":"Suo","year":"2024","journal-title":"Hum Genet"},{"key":"R15-20260330","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s42466-023-00268-2","article-title":"A familial missense ACTA2 variant p. Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection","volume":"5","author":"Focke","year":"2023","journal-title":"Neurol Res Pract"}],"container-title":["Brain Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/bc.bc_78_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:43:13Z","timestamp":1787838193000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/bc.bc_78_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,3]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/bc.bc_78_24","relation":{},"ISSN":["2394-8108","2455-4626"],"issn-type":[{"value":"2394-8108","type":"print"},{"value":"2455-4626","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,3]]},"assertion":[{"value":"2024-07-28","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-08","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}