{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T16:47:29Z","timestamp":1784306849163,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009620","name":"Science and Technology Department of Gansu Province","doi-asserted-by":"publisher","award":["21JR1RA136"],"award-info":[{"award-number":["21JR1RA136"]}],"id":[{"id":"10.13039\/501100009620","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell. Neurosci."],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is an inherited disorder characterized by degeneration of motor neurons and symmetrical muscle weakness and atrophy. Moyamoya syndrome (MMS) or moyamoya disease (MMD) is radiologically defined by chronic cerebrovascular occlusion with abnormal vascular network formation in the skull base. We report herein a 21-year-old female patient with limb weakness and muscular atrophy for 17 years. Electromyography revealed extensive motor neuron damage. Cranial MRA showed occlusion of bilateral anterior and middle cerebral arteries, with increased peripheral blood vessels and collateral circulation. She was diagnosed as SMA type IIIb combined with MMS following genetic testing, in which homozygous deletion of exons 7 and 8 of survival motor neuron (SMN)1 gene and 3 copies of exons 7 and 8 of <jats:italic>SMN2<\/jats:italic> gene were detected. After treatment, the patient's symptoms improved. Our study found that the rare SMA and MMS co-exist. We speculated that the moyamoya phenomenon may be related to the abnormal regulation of intracranial vascular endothelial cells and smooth muscle cells in proliferation and differentiation caused by functional defects of SMN protein. The relationship between the two diseases needs to be further elucidated in future clinical work.<\/jats:p>","DOI":"10.3389\/fncel.2022.811596","type":"journal-article","created":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T04:53:15Z","timestamp":1643691195000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review"],"prefix":"10.3389","volume":"16","author":[{"given":"Jing","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guode","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,2,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1111\/cge.12222","article-title":"Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene","volume":"85","author":"Al\u00edas","year":"2014","journal-title":"Clin. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1887","DOI":"10.1016\/j.ymthe.05.011","article-title":"AAV9-mediated expression of SMN restricted to neurons does not rescue the spinal muscular atrophy phenotype in mice","volume":"28","author":"Besse","year":"2020","journal-title":"Mol. Ther."},{"key":"B3","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1007\/s00415-018-8968-7","article-title":"Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease","volume":"266","author":"Breza","year":"2019","journal-title":"J. Neurol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1334","DOI":"10.1111\/ene.14700","article-title":"Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation","volume":"28","author":"Frasquet","year":"2021","journal-title":"Eur. J. Neurol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/dmcn.14027","article-title":"Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps","volume":"61","author":"Gidaro","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"3847","DOI":"10.1093\/hmg\/ddv127","article-title":"SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice","volume":"24","author":"Gombash","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.gene.12109","article-title":"Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy","volume":"518","author":"He","year":"2013","journal-title":"Gene"},{"key":"B8","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/s0387-7604(03)00075-5","article-title":"Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings","volume":"26","author":"Ito","year":"2004","journal-title":"Brain Dev."},{"key":"B9","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"B10","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1097\/RCT.0000000000000834","article-title":"Imaging of moyamoya disease and moyamoya syndrome: current status","volume":"43","author":"Li","year":"2019","journal-title":"J. Comput. Assist. Tomogr."},{"key":"B11","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/s0960-8966(06)80015-5","article-title":"International SMA consortium meeting. (26\u201328 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"B12","doi-asserted-by":"publisher","first-page":"105414","DOI":"10.1016\/j.jstrokecerebrovasdis.2020.105414","article-title":"Moyamoya disease associated with Graves' disease and Down syndrome: a case report and literature review","volume":"30","author":"Nakamura","year":"2021","journal-title":"J. Stroke Cerebrovasc. Dis."},{"key":"B13","doi-asserted-by":"publisher","first-page":"779","DOI":"10.2174\/1566524016666161128113338","article-title":"Spinal muscular atrophy: more than a disease of motor neurons?","volume":"16","author":"Nash","year":"2016","journal-title":"Curr. Mol. Med."},{"key":"B14","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/s00381-012-1708-x","article-title":"Discovery of cerebrovascular moyamoya disease: research during the late 1950s and early 1960s","volume":"28","author":"Oshima","year":"2012","journal-title":"Childs Nerv. Syst."},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1136.\/bcr-2015-212894","article-title":"Is congenital melanocytic naevus a link between Hirayama disease and moyamoya pattern: a new syndrome or a co-incidence?","author":"Puri","year":"2016","journal-title":"BMJ Case Rep"},{"key":"B16","doi-asserted-by":"publisher","first-page":"559","DOI":"10.3389\/fphys.2019.00559","article-title":"Survival motor neuron (SMN) protein insufficiency exacerbates renal ischemia\/reperfusion injury","volume":"10","author":"Qian","year":"2019","journal-title":"Front. Physiol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"e437","DOI":"10.1542\/neo.20-8-e437","article-title":"Spinal muscular atrophy: past, present, and future","volume":"20","author":"Ross","year":"2019","journal-title":"NeoReviews"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"B19","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1007\/BF00685353","article-title":"A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots","volume":"60","author":"Shishikura","year":"1983","journal-title":"Acta Neuropathol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/ana.24549","article-title":"Vascular defects and spinal cord hypoxia in spinal muscular atrophy","volume":"79","author":"Somers","year":"2016","journal-title":"Ann. Neurol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/j.nmd.10021","article-title":"Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy","volume":"22","author":"Somers","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"B22","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1824-7288-40-59","article-title":"Moyamoya syndrome and neurofibromatosis type 1","volume":"40","author":"Vargiami","year":"2014","journal-title":"Ital. J. Pediatr."},{"key":"B23","doi-asserted-by":"publisher","first-page":"4216","DOI":"10.1093\/hmg\/ddq340","article-title":"SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy","volume":"19","author":"Wishart","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"e10001","DOI":"10.7759\/cureus.10001","article-title":"Moyamoya syndrome in a 32-year-old male with sickle cell anemia","volume":"12","author":"Yamani","year":"2020","journal-title":"Cureus"}],"container-title":["Frontiers in Cellular Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fncel.2022.811596\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T04:53:18Z","timestamp":1643691198000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fncel.2022.811596\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,1]]},"references-count":24,"alternative-id":["10.3389\/fncel.2022.811596"],"URL":"https:\/\/doi.org\/10.3389\/fncel.2022.811596","relation":{},"ISSN":["1662-5102"],"issn-type":[{"value":"1662-5102","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,1]]},"article-number":"811596"}}