{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:15:01Z","timestamp":1772165701501,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:00:00Z","timestamp":1556841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s12883-019-1319-1","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T11:04:30Z","timestamp":1556881470000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27\u2009years of investigations \u2013 a case report"],"prefix":"10.1186","volume":"19","author":[{"given":"Sofia","family":"Thunstr\u00f6m","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-4007","authenticated-orcid":false,"given":"Markus","family":"Axelsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,5,3]]},"reference":[{"key":"1319_CR1","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1172\/JCI114262","volume":"84","author":"KM Shannon","year":"1989","unstructured":"Shannon KM, Turhan AG, Chang SS, et al. Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. J Clin Invest. 1989;84:984\u20139.","journal-title":"J Clin Invest"},{"key":"1319_CR2","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1016\/0002-9343(78)90744-1","volume":"65","author":"FP Li","year":"1978","unstructured":"Li FP, Potter NU, Buchanan GR, Vawter G, Whang-Peng J, Rosen RB. A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. Am J Med. 1978;65:933\u201340.","journal-title":"Am J Med"},{"key":"1319_CR3","volume-title":"SANDL9-related ataxia-pancytopeniasyndrome","author":"PCD Phowthongkum","year":"1993","unstructured":"Phowthongkum PCD, Raskind WH, Bird T. SANDL9-related ataxia-pancytopeniasyndrome; 1993."},{"key":"1319_CR4","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.ccr.2013.08.011","volume":"24","author":"A Nagamachi","year":"2013","unstructured":"Nagamachi A, Matsui H, Asou H, et al. Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell. 2013;24:305\u201317.","journal-title":"Cancer Cell"},{"key":"1319_CR5","doi-asserted-by":"publisher","first-page":"e183","DOI":"10.1212\/NXG.0000000000000183","volume":"3","author":"S Gorcenco","year":"2017","unstructured":"Gorcenco S, Komulainen-Ebrahim J, Nordborg K, et al. Ataxia-pancytopenia syndrome with SAMD9L mutations. Neurol Genet. 2017;3:e183.","journal-title":"Neurol Genet"},{"key":"1319_CR6","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1002\/mds.22740","volume":"25","author":"T Schmitz-Hubsch","year":"2010","unstructured":"Schmitz-Hubsch T, Coudert M, Giunti P, et al. Self-rated health status in spinocerebellar ataxia--results from a European multicenter study. Mov Disord. 2010;25:587\u201395.","journal-title":"Mov Disord"},{"key":"1319_CR7","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1016\/j.parkreldis.2014.03.029","volume":"20","author":"K Wictorin","year":"2014","unstructured":"Wictorin K, Bradvik B, Nilsson K, et al. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? Parkinsonism Relat Disord. 2014;20:748\u201354.","journal-title":"Parkinsonism Relat Disord"},{"key":"1319_CR8","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1016\/j.parkreldis.2014.04.018","volume":"20","author":"E Ygland","year":"2014","unstructured":"Ygland E, Taroni F, Gellera C, et al. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Parkinsonism Relat Disord. 2014;20:919\u201323.","journal-title":"Parkinsonism Relat Disord"},{"key":"1319_CR9","doi-asserted-by":"publisher","unstructured":"Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS. A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. Haematologica; 2019. \n                    https:\/\/doi.org\/10.3324\/haematol.2018.207316\n                    \n                  . Epub ahead of print.","DOI":"10.3324\/haematol.2018.207316"},{"key":"1319_CR10","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1016\/j.ajhg.2016.04.009","volume":"98","author":"DH Chen","year":"2016","unstructured":"Chen DH, Below JE, Shimamura A, et al. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet. 2016;98:1146\u201358.","journal-title":"Am J Hum Genet"},{"key":"1319_CR11","doi-asserted-by":"publisher","first-page":"2266","DOI":"10.1182\/blood-2016-10-743302","volume":"129","author":"B Tesi","year":"2017","unstructured":"Tesi B, Davidsson J, Voss M, et al. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood. 2017;129:2266\u201379.","journal-title":"Blood."}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-019-1319-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12883-019-1319-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-019-1319-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T19:10:54Z","timestamp":1588360254000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-019-1319-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,3]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["1319"],"URL":"https:\/\/doi.org\/10.1186\/s12883-019-1319-1","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.2.307\/v1","asserted-by":"object"},{"id-type":"doi","id":"10.21203\/rs.2.307\/v2","asserted-by":"object"},{"id-type":"doi","id":"10.21203\/rs.2.307\/v3","asserted-by":"object"}]},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,3]]},"assertion":[{"value":"27 November 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not Applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient has given a written consent for publication of the case report and the images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"ST has no financial or nonfinancial disclosures.MA has received compensation for lectures and\/or advisory boards from Biogen, Genzyme, and Novartis.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"89"}}