{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:33:36Z","timestamp":1772120016474,"version":"3.50.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This report describes an adult case of Poretti\u2013Boltshauser syndrome (PTBHS) and with novel variants of\n                    <jats:italic>LAMA1<\/jats:italic>\n                    . A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in\n                    <jats:italic>LAMA1<\/jats:italic>\n                    (NM_005559.4). Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60\u00a0s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult cerebellar ataxia with mild presentation.\n                  <\/jats:p>","DOI":"10.1007\/s12311-024-01673-2","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:02:27Z","timestamp":1709164947000},"page":"2205-2207","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup"],"prefix":"10.1007","volume":"23","author":[{"given":"Kensuke","family":"Ikeda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayane","family":"Tamagake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takafumi","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rumiko","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuo","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Misu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"1673_CR1","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.ajhg.2014.07.007","volume":"95","author":"KA Aldinger","year":"2014","unstructured":"Aldinger KA, Mosca SJ, Tetreault M, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014;95:227\u201334.","journal-title":"Am J Hum Genet"},{"key":"1673_CR2","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1038\/ejhg.2016.19","volume":"24","author":"A Micalizzi","year":"2016","unstructured":"Micalizzi A, Poretti A, Romani M, et al. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). Eur J Hum Genet. 2016;24:1262\u20137.","journal-title":"Eur J Hum Genet"},{"key":"1673_CR3","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1146\/annurev.cellbio.20.010403.094555","volume":"20","author":"JH Miner","year":"2004","unstructured":"Miner JH, Yurchenco PD. Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol. 2004;20:255\u201384.","journal-title":"Annu Rev Cell Dev Biol"},{"key":"1673_CR4","doi-asserted-by":"publisher","first-page":"480","DOI":"10.4161\/cam.5.6.19191","volume":"5","author":"C Heng","year":"2011","unstructured":"Heng C, Lefebvre O, Klein A, et al. Functional role of laminin alpha1 chain during cerebellum development. Cell Adh Migr. 2011;5:480\u20139.","journal-title":"Cell Adh Migr"},{"key":"1673_CR5","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.matbio.2011.09.002","volume":"31","author":"N Ichikawa-Tomikawa","year":"2012","unstructured":"Ichikawa-Tomikawa N, Ogawa J, Douet V, et al. Laminin alpha1 is essential for mouse cerebellar development. Matrix Biol. 2012;31:17\u201328.","journal-title":"Matrix Biol"},{"key":"1673_CR6","doi-asserted-by":"publisher","first-page":"104692","DOI":"10.1016\/j.ejmg.2022.104692","volume":"66","author":"C Geerts","year":"2023","unstructured":"Geerts C, Sznajer Y, D\u2019Haenens E, Dumitriu D, Nassogne MC. Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia. Eur J Med Genet. 2023;66:104692.","journal-title":"Eur J Med Genet"},{"key":"1673_CR7","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1186\/s12881-019-0794-y","volume":"20","author":"H Yan","year":"2019","unstructured":"Yan H, Shi Z, Wu Y, et al. Targeted next generation sequencing in 112 Chinese patients with intellectual disability\/developmental delay: novel mutations and candidate gene. BMC Med Genet. 2019;20:80.","journal-title":"BMC Med Genet"},{"key":"1673_CR8","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s12311-013-0521-8","volume":"13","author":"A Poretti","year":"2014","unstructured":"Poretti A, Hausler M, von Moers A, et al. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum. 2014;13:79\u201388.","journal-title":"Cerebellum"},{"key":"1673_CR9","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1007\/s12311-014-0633-9","volume":"14","author":"E Boltshauser","year":"2015","unstructured":"Boltshauser E, Scheer I, Huisman TA, Poretti A. Cerebellar cysts in children: a pattern recognition approach. Cerebellum. 2015;14:308\u201316.","journal-title":"Cerebellum"},{"key":"1673_CR10","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1007\/s12311-021-01350-8","volume":"21","author":"F D'Abrusco","year":"2022","unstructured":"D\u2019Abrusco F, Arrigoni F, Serpieri V, et al. Get your molar tooth right: Joubert syndrome misdiagnosis unmasked by whole-exome sequencing. Cerebellum. 2022;21:1144\u201350.","journal-title":"Cerebellum"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01673-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-024-01673-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01673-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T14:03:36Z","timestamp":1729346616000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-024-01673-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,29]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,10]]}},"alternative-id":["1673"],"URL":"https:\/\/doi.org\/10.1007\/s12311-024-01673-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3892643\/v1","asserted-by":"object"}]},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,29]]},"assertion":[{"value":"20 February 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 February 2024","order":2,"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 Ethics Committee of the Tohoku University Hospital (Approval number: 34832); The patient provided informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The patient consented to the submission of the case report to the journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}