{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:15:08Z","timestamp":1772165708051,"version":"3.50.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"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":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neuromyelitis optica spectrum disorder (NMOSD) are autoimmune inflammatory disorders of the CNS in which patients have severe relapses of optic neuritis and myelitis. Aquaporin-4 antibody (AQP4-IgG) positive NMOSD has not been reported in members of the same family in Sub Saharan Africa. We report the uncommon scenario in which both a Ugandan HIV positive woman and her HIV negative daughter were diagnosed with AQP4-IgG positive NMOSD. We discuss pathogenic mechanisms that may underlie familial presentation of AQP4-IgG positive NMOSD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>Case 1, a 54-year-old female teacher with a 20-year history of HIV infection and virally suppressed on Tenofovir, Lamivudine and Dolutegravir HAART regimen, presented with 8 months of progressive quadriparesis and urinary incontinence with a T6 sensory level. She had gadolinium enhancing longitudinally extensive transverse myelitis on MRI and was AQP4-IgG positive on serum studies. She received IV Methylprednisone 1\u00a0g daily for 3 days as a pulse and was continued on tapering doses of oral Prednisone with maintenance doses of Azathioprine. She showed slow improvements in limb motor function. Her daughter, case 2, is a 35-year-old HIV negative nutritionist, independently ambulant, with no known comorbidities or precedent autoimmune disease. She presented 1 year before her mother\u2019s AQP4-IgG positive NMOSD diagnosis with 7 months history of bilateral visual loss of rapid onset, with gadolinium-enhancing optic nerves on Brain and orbit MRI, in keeping with bilateral optic neuritis. She was AQP4-IgG positive on serum studies. She stabilized on tapered doses of oral Prednisone and continues daily oral Azathioprine with moderate improvement in her vision and no further relapses as yet.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We add to existing literature and hypothesize that NMOSD appears to show a complex genetic background. To our knowledge, this is the first report in Sub-Saharan Africa, of familial AQP4-IgG positive NMOSD presenting with clinical heterogeneity between first degree relatives. A better understanding of the pathogenic mechanisms involved, including genome wide studies for particular risk loci for familial NMOSD, will be pivotal for future preventative and therapeutic strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12883-023-03366-5","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T04:07:49Z","timestamp":1693800469000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Different clinical phenotypes of AQP4-IgG positive NMOSD in two first degree relatives"],"prefix":"10.1186","volume":"23","author":[{"given":"Salvatore","family":"Ssemmanda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdu Kisekka","family":"Musubire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,9,4]]},"reference":[{"issue":"4","key":"3366_CR1","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1212\/WNL.0b013e3181ea9f15","volume":"75","author":"M Matiello","year":"2010","unstructured":"Matiello M, Kim HJ, Kim W, Brum DG, Barreira AA, Kingsbury DJ, et al. Familial neuromyelitis optica. Neurology. 2010;75(4):310\u20135.","journal-title":"Neurology"},{"issue":"4","key":"3366_CR2","first-page":"207","volume":"79","author":"SC Kavoussi","year":"2015","unstructured":"Kavoussi SC, Lesser RL. Genetic anticipation in familial Neuromyelitis Optica: Case and Literature Review. Conn Med. 2015;79(4):207\u20139.","journal-title":"Conn Med"},{"key":"3366_CR3","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.msard.2018.11.014","volume":"27","author":"T Mathew","year":"2019","unstructured":"Mathew T, Avati A, D\u2019Souza D, Therambil M, Baptist AA, Shaji A, et al. HIV infection associated neuromyelitis optica spectrum disorder: clinical features, imaging findings, management and outcomes. Mult Scler Relat Disord. 2019;27:289\u201393.","journal-title":"Mult Scler Relat Disord"},{"key":"3366_CR4","doi-asserted-by":"publisher","first-page":"103960","DOI":"10.1016\/j.msard.2022.103960","volume":"65","author":"S Paybast","year":"2022","unstructured":"Paybast S, Emami A, Baghalha F, Naser Moghadasi A. Watch out for neuromyelitis optica spectrum disorder onset or clinical relapse after COVID-19 vaccination: what neurologists need to know? Mult Scler Relat Disord. 2022;65:103960.","journal-title":"Mult Scler Relat Disord"},{"key":"3366_CR5","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.msard.2019.02.002","volume":"30","author":"JJ Lee","year":"2019","unstructured":"Lee JJ, Tsai MH, Lien CY, Huang YJ, Chang WN. Intra-family phenotype variations in familial neuromyelitis optica spectrum disorders. Mult Scler Relat Disord. 2019;30:57\u201362.","journal-title":"Mult Scler Relat Disord"},{"key":"3366_CR6","unstructured":"A Comprehensive Review on. The role of genetic factors in Neuromyelitis Optica Spectrum Disorder | Enhanced Reader."}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-023-03366-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-023-03366-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-023-03366-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T19:13:55Z","timestamp":1700507635000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-023-03366-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,4]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["3366"],"URL":"https:\/\/doi.org\/10.1186\/s12883-023-03366-5","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-2693737\/v1","asserted-by":"object"}]},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,4]]},"assertion":[{"value":"14 March 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 September 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent for publication was obtained in writing from the anonymized cases in this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"315"}}