{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T14:52:40Z","timestamp":1774795960821,"version":"3.50.1"},"reference-count":39,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Multiple Sclerosis Journal \u2013 Experimental, Translational and Clinical"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic neurocutaneous disorder. Multiple sclerosis (MS) is an immune-mediated demyelinating disorder of the central nervous system. The rates of occurrence are higher than expected by chance, suggesting that an underlying predisposition may exist. We aimed to systematically review the literature to better understand the concurrence and contribute four additional patients to the existing literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study is a systematic review as well as retrospective case series. Pubmed, Embase, Cochrane, Scopus, and Web of Science were queried for full articles in English reporting on cases of concurrent NF1 and MS between 1990 and 2023.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The systematic review revealed 34 reported cases of patients with both NF1 and MS across 18 papers. Ten patients had primary progressive MS, seven had relapse-remitting MS, five had secondary progressive MS, and 12 did not have a specific MS classification. Thirty-three had at least one reported brain lesion and 18 had at least one reported spine lesion. Our cohort contains four female patients; all with brain lesions and three with spinal lesions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although rare, NF1 and MS can occur within the same patient. Previous literature has been inconsistent in the information reported about patients with these concurrent diagnoses. Additional research is required to better understand the concurrent disease processes, whether a predisposition exists, as well as the best therapeutic approaches for these patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/20552173261433307","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:06:16Z","timestamp":1774526776000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["The interconnection of multiple sclerosis and neurofibromatosis type 1: A single institution retrospective study and systematic review"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9459-7773","authenticated-orcid":false,"given":"Danielle A","family":"Bazer","sequence":"first","affiliation":[{"name":"Johns Hopkins Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5087-0648","authenticated-orcid":false,"given":"Grace E","family":"Tobin","sequence":"additional","affiliation":[{"name":"Johns Hopkins Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nyah","family":"Woller-Li","sequence":"additional","affiliation":[{"name":"Johns Hopkins Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4909-4226","authenticated-orcid":false,"given":"Marcus","family":"Spann","sequence":"additional","affiliation":[{"name":"Johns Hopkins University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0260-7047","authenticated-orcid":false,"given":"Carlos G","family":"Romo","sequence":"additional","affiliation":[{"name":"Johns Hopkins Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02911-2"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33139"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01170-5"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007035"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200151"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70086-7"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1177\/1352458520907901"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.61.8.1032"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00255-1"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30470-2"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01463-z"},{"key":"e_1_3_3_14_2","volume-title":"Multiple sclerosis and neurofibromatosis type 1: case series and systematic literature review2024 Global NF Conference Abstract Book","author":"Bazer DA","unstructured":"Bazer DA, Tobin G, Woller-Li N, et al. Multiple sclerosis and neurofibromatosis type 1: case series and systematic literature review. In: 2024 Global NF Conference Abstract Book, Brussels, Belgium; 2024."},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.70"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90024-9"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M209413200"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20110060"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90270-N"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00012510"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresrev.2004.01.003"},{"key":"e_1_3_3_22_2","first-page":"906","article-title":"The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene","volume":"11","author":"Viskochil D","year":"1991","unstructured":"Viskochil D, Cawthon R, O\u2019Connell P, et al. The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Mol Cell Biol 1991; 11: 906\u2013912.","journal-title":"Mol Cell Biol"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10787-010-0054-4"},{"key":"e_1_3_3_24_2","first-page":"2190","article-title":"Neurofibromatosis type 1 with highly active relapsing-remitting multiple sclerosis (RRMS)","volume":"8","author":"Ciotti S","year":"2021","unstructured":"Ciotti S, Cometa A, De Carlo C, et al. Neurofibromatosis type 1 with highly active relapsing-remitting multiple sclerosis (RRMS). Eur J Case Rep Intern Med 2021; 8: 2190.","journal-title":"Eur J Case Rep Intern Med"},{"key":"e_1_3_3_25_2","first-page":"203","article-title":"Multiple sclerosis and neurofibromatosis type 1","volume":"11","author":"El-Heis M","year":"2017","unstructured":"El-Heis M, Gharaibeh M, Al-Omari M, et al. Multiple sclerosis and neurofibromatosis type 1. Res J Med Sci [Internet] 2017; 11: 203\u2013207. Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L621270372&from=exporthttp:\/\/dx.doi.org\/10.3923\/rjmsci.2017.203.207.","journal-title":"Res J Med Sci [Internet]"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmhg.2016.10.001"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1177\/1352458509106612"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.58.5.582"},{"key":"e_1_3_3_29_2","article-title":"A large cervical spinal cord lesion in a patient with neurofibromatosis type 1: multiple sclerosis plaque or hamartoma","volume":"88","author":"Gillani R","year":"2017","unstructured":"Gillani R, Klawiter E, Jordan J. A large cervical spinal cord lesion in a patient with neurofibromatosis type 1: multiple sclerosis plaque or hamartoma. Neurology [Internet] 2017; 88, Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L616551330&from=export.","journal-title":"Neurology [Internet]"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.msard.2019.04.016"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.68.5.643"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.26444\/aaem\/142267"},{"key":"e_1_3_3_33_2","first-page":"231","article-title":"Full body MRI in neurofibromatosis type I","volume":"28","author":"Magun R","year":"2018","unstructured":"Magun R, Anand A, Mazhari A, et al. Full body MRI in neurofibromatosis type I. J Neuroimaging [Internet] 2018; 28: 231. Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L621379642&from=exporthttp:\/\/dx.doi.org\/10.1111\/jon.2018.28.issue-2.","journal-title":"J Neuroimaging [Internet]"},{"key":"e_1_3_3_34_2","first-page":"25","article-title":"Relapsing remitting multiple sclerosis in an Iranian patient with neurofibromatosis type I","volume":"7","author":"Mohebi N","year":"2015","unstructured":"Mohebi N, Moghaddasi M, Zaribafian M. Relapsing remitting multiple sclerosis in an Iranian patient with neurofibromatosis type I. Neurol Int [Internet] 2015; 7: 25\u201327. Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L606152137&from=exporthttp:\/\/dx.doi.org\/10.4081\/ni.2015.5966.","journal-title":"Neurol Int [Internet]"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-1331.2001.00320.x"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.71.5.679"},{"key":"e_1_3_3_37_2","first-page":"505","article-title":"Neurofibromatosis type I associated multiple sclerosis","volume":"94","author":"Pipatpajong H","year":"2011","unstructured":"Pipatpajong H, Phanthumchinda K. Neurofibromatosis type I associated multiple sclerosis. J Med Assoc Thai 2011; 94: 505\u2013510.","journal-title":"J Med Assoc Thai"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-010-0252-2"},{"key":"e_1_3_3_39_2","article-title":"Neurofibromatosis 1 and multiple sclerosis: a case report","volume":"53","author":"Theofanopoulou M","year":"2011","unstructured":"Theofanopoulou M, Syrgiannnis K, Zachari E, et al. Neurofibromatosis 1 and multiple sclerosis: a case report. Neuroradiology [Internet] 2011; 53: S88. Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L71809914&from=exporthttp:\/\/dx.doi.org\/10.1007\/s00234-011-0913-8.","journal-title":"Neuroradiology [Internet]"},{"key":"e_1_3_3_40_2","article-title":"Efficacy of cannabinoids on spasticity and chronic pain in a patient with co-occurrence of multiple sclerosis and neurofibromatosis type 1","volume":"8","author":"Virgilio E","year":"2021","unstructured":"Virgilio E, Vecchio D, Naldi P, et al. Efficacy of cannabinoids on spasticity and chronic pain in a patient with co-occurrence of multiple sclerosis and neurofibromatosis type 1. Eur J Case Rep Intern Med [Internet] 2021; 8, Available from: https:\/\/www.embase.com\/search\/results?subaction=viewrecord&id=L2012937450&from=exporthttp:\/\/dx.doi.org\/10.12890\/2021_002424.","journal-title":"Eur J Case Rep Intern Med [Internet]"}],"container-title":["Multiple Sclerosis Journal \u2013 Experimental, Translational and Clinical"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/20552173261433307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/20552173261433307","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/20552173261433307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T14:16:33Z","timestamp":1774793793000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/20552173261433307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1177\/20552173261433307"],"URL":"https:\/\/doi.org\/10.1177\/20552173261433307","relation":{},"ISSN":["2055-2173","2055-2173"],"issn-type":[{"value":"2055-2173","type":"print"},{"value":"2055-2173","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"article-number":"20552173261433307"}}