{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:40:00Z","timestamp":1778636400582,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,11,16]],"date-time":"2010-11-16T00:00:00Z","timestamp":1289865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Haematopoietic stem cell transplantation has an unproven role in the management of late\u2010onset metachromatic leukodystrophy: theoretically justified through the engraftment of enzyme\u2010replete haematopoietic progenitors and restoration of capacity for sulphatide catabolism in neural tissue through enzyme recapture, the long\u2010term outcome is unknown. The rarity of the psycho\u2010cognitive variant and slow progression of late\u2010onset disease impairs evaluation of treatment. We report detailed clinical and neuropsychological assessments after haematopoietic stem\u2010cell transplantation in a patient with a late\u2010onset psycho\u2010cognitive form of metachromatic leukodystrophy. Cognitive decline, indistinguishable from the natural course of the disease, was serially documented over 11 years despite complete donor chimaerism and correction of leukocyte arylsulphatase A to wild type values; subtle motor deterioration was similarly noted and progressive cerebral volume loss was evident upon magnetic resonance imaging. Sensory nerve conduction deteriorated 17 months post\u2010transplantation with apparent stabilisation at 11\u2010year review. Haematopoietic stem\u2010cell transplantation was ineffective for this rare attenuated variant of metachromatic leukodystrophy. In the few patients identified pre\u2010symptomatically or with early\u2010phase disease, clear recommendations are lacking; when transplantation is considered, umbilical cord blood grafts from enzyme\u2010replete donors with adjunctive mesenchymal stem cell infusions from the same source may be preferable. Improved outcomes will depend on enhanced awareness and early diagnosis of the disease, so that promising interventions such as genetically modified, autologous stem cell transplantation have the best opportunity of success.<\/jats:p>","DOI":"10.1007\/s10545-010-9240-1","type":"journal-article","created":{"date-parts":[[2010,11,15]],"date-time":"2010-11-15T09:16:33Z","timestamp":1289812593000},"page":"471-475","source":"Crossref","is-referenced-by-count":18,"title":["Haematopoietic stem cell transplantation does not retard disease progression in the psycho\u2010cognitive variant of late\u2010onset metachromatic leukodystrophy"],"prefix":"10.1002","volume":"33","author":[{"given":"Nicholas J.","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Medicine University of Cambridge, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Box 157 Cambridge CB2 0QQ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert E.","family":"Marcus","sequence":"additional","affiliation":[{"name":"Department of Haematological Medicine, King's College Hospital King's College Hospital NHS Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara J.","family":"Sahakian","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and MRC\/Wellcome Trust Behavioural and Clinical Neuroscience Institute University of Cambridge Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narinder","family":"Kapur","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuropsychology, Addenbrooke's Hospital Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Cambridge, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Box 157 Cambridge CB2 0QQ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)90402-7"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200419205"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.275"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0258-8"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042604"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704024"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807306256"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92597-X"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400402"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.1.98"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703650"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2006.12.172"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.1.254"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(96)00164-6"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21522"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.172.3989.1263"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000234129.97727.4d"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.tp.0000181457.43146.36"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0540-z"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1089\/15258160260194767"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1701485"}],"container-title":["Journal 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