{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T20:55:06Z","timestamp":1789419306636,"version":"build-2803163510"},"reference-count":35,"publisher":"FapUNIFESP (SciELO)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4\/5 related and 3\/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5\/6 CALD, 1\/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and\/or from a related donor.<\/jats:p>","DOI":"10.1590\/0004-282x20160155","type":"journal-article","created":{"date-parts":[[2016,12,15]],"date-time":"2016-12-15T15:39:16Z","timestamp":1481816356000},"page":"953-966","source":"Crossref","is-referenced-by-count":16,"title":["Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome"],"prefix":"10.1590","volume":"74","author":[{"given":"Jonas Alex Morales","family":"Saute","sequence":"first","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Fischinger Moura de","family":"Souza","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiano de Oliveira","family":"Poswar","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian Gon\u00e7alves","family":"Campos","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana Vanessa Santini","family":"Deyl","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maira Graeff","family":"Burin","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen Regla","family":"Vargas","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula da Silveira","family":"Matte","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luiza","family":"Saraiva-Pereira","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo Modesti","family":"Vedolin","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauro Jos\u00e9","family":"Gregianin","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Bannach","family":"Jardim","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Hospital de Cl\u00ednicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"9","key":"ref1","doi-asserted-by":"crossref","first-page":"2737","DOI":"10.1182\/blood.V83.9.2737.2737","article-title":"Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation","volume":"83","author":"Krall WJ","year":"1994","journal-title":"Blood"},{"issue":"5","key":"ref2","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1212\/01.wnl.0000234129.97727.4d","article-title":"Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype","volume":"67","author":"Rauschka H","year":"2006","journal-title":"Neurology"},{"issue":"2","key":"ref3","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2010.10.002","article-title":"Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings","volume":"102","author":"Cable C","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"4","key":"ref4","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbmt.2013.01.010","article-title":"Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy","volume":"19","author":"Martin HR","year":"2013","journal-title":"Biol Blood Marrow Transplant"},{"issue":"8","key":"ref5","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1038\/bmt.2014.93","article-title":"Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy","volume":"49","author":"Solders M","year":"2014","journal-title":"Bone Marrow Transplant"},{"issue":"6","key":"ref6","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/j.bbmt.2007.01.082","article-title":"Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy","volume":"13","author":"Beam D","year":"2007","journal-title":"Biol Blood Marrow Transplant"},{"issue":"7","key":"ref7","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1182\/blood-2011-01-329235","article-title":"Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report","volume":"118","author":"Miller WP","year":"2011","journal-title":"Blood"},{"issue":"7","key":"ref8","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","article-title":"Hurler syndrome: II. 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Ther"},{"issue":"4","key":"ref24","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s10545-010-9079-5","article-title":"Clinical aspects of neuropathic lysosomal storage disorders","volume":"33","author":"Jardim LB","year":"2010","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"ref25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1590\/S0004-282X2006000100001","article-title":"Bone marrow transplantation in patients with storage diseases: a developing country experience","volume":"64","author":"Lange MC","year":"2006","journal-title":"Arq Neuropsiquiatr"},{"issue":"3","key":"ref26","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1182\/blood-2003-10-3402","article-title":"Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999","volume":"104","author":"Peters 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maturation","volume":"158A","author":"Ding X-Q","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"3","key":"ref30","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/bmt.2012.155","article-title":"Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort","volume":"48","author":"Kr\u00e4geloh-Mann I","year":"2013","journal-title":"Bone Marrow Transplant"},{"issue":"6","key":"ref31","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1001\/jamaneurol.2013.629","article-title":"Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy","volume":"70","author":"Egmond ME","year":"2013","journal-title":"JAMA Neurol"},{"issue":"s3","key":"ref32","doi-asserted-by":"crossref","first-page":"S471","DOI":"10.1007\/s10545-010-9240-1","article-title":"Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy","volume":"33","author":"Smith NJ","year":"2010","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"ref33","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ymgme.2013.05.016","article-title":"Residual \u03b1-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients","volume":"109","author":"Oussoren E","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"1","key":"ref34","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1053\/j.seminhematol.2009.10.008","article-title":"Transplant outcomes in mucopolysaccharidoses","volume":"47","author":"Prasad VK","year":"2010","journal-title":"Semin Hematol"},{"issue":"1-2","key":"ref35","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2012.07.016","article-title":"An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell 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