{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T05:08:29Z","timestamp":1785215309033,"version":"3.55.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T00:00:00Z","timestamp":1576454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100008069","name":"UCSF","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutations in colony stimulating factor 1 receptor (CSF1R). Here we report clinical and imaging outcomes following allogeneic haematopoietic stem cell transplantation (HSCT) in two patients with ALSP at the University of California, San Francisco between January 2016 and December 2017. Patient 1 proceeded to transplantation at age 53 with a haplo-identical sibling donor. Patient 2, whose sister and mother had died of the disease, proceeded to transplantation at age 49 with a 12\/12 human leukocyte antigen-matched unrelated donor. Both patients received reduced intensity conditioning regimens. At 28 and 26 months post-HSCT, respectively, both patients were alive, without evidence of graft-versus-host disease, with major infection at 1 year in one and new-onset seizures in the other. In both cases, neurological worsening continued post-HSCT; however, the progression in cognitive deficits, overall functional status and gait impairment gradually stabilized. There was continued progression of parkinsonism in both patients. On brain MRI, within 1 year there was stabilization of T2\/FLAIR abnormalities, and after 2 years there was complete resolution of abnormal multifocal reduced diffusion. In summary, after &amp;gt;2 years of follow-up, allogeneic HSCT in ALSP led to interval resolution of diffusion MRI abnormalities, stabilization of T2\/FLAIR MRI abnormalities, and partial clinical stabilization, supportive of treatment response. Allogeneic HSCT may be beneficial in ALSP by providing a supply of bone marrow-derived brain-engrafting myeloid cells with donor wild-type CSF1R to repopulate the microglial niche.<\/jats:p>","DOI":"10.1093\/brain\/awz390","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T15:10:15Z","timestamp":1574435415000},"page":"503-511","source":"Crossref","is-referenced-by-count":58,"title":["Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia"],"prefix":"10.1093","volume":"143","author":[{"given":"Jeffrey M","family":"Gelfand","sequence":"first","affiliation":[{"name":"Department of Neurology, Division of Neuroimmunology and Glial Biology, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariele L","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Neuroimmunology and Glial Biology, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Barkovich","sequence":"additional","affiliation":[{"name":"Department of Radiology, Division of Neuroradiology, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A","family":"Mendelsohn","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Van Haren","sequence":"additional","affiliation":[{"name":"Department of Neurology, Stanford University, Palo Alto, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher P","family":"Hess","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Neuroimmunology and Glial Biology, University of California, San Francisco, CA, USA"},{"name":"Department of Radiology, Division of Neuroradiology, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel N","family":"Mannis","sequence":"additional","affiliation":[{"name":"Hematology and Blood and Marrow Transplantation, University of California, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,12,16]]},"reference":[{"key":"2020021011131180800_awz390-B1","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.jocn.2017.10.060","article-title":"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD)","volume":"48","author":"Adams","year":"2018","journal-title":"J Clin Neurosci"},{"key":"2020021011131180800_awz390-B2","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1097\/nen.0b013e3180986247","article-title":"A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia\u2013a role for oxidative damage","volume":"66","author":"Ali","year":"2007","journal-title":"J Neuropathol Exp Neurol"},{"key":"2020021011131180800_awz390-B3","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.1007\/s00415-014-7509-2","article-title":"Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)","volume":"261","author":"Bender","year":"2014","journal-title":"J Neurol"},{"key":"2020021011131180800_awz390-B4","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/j.neuron.2018.05.014","article-title":"A combination of ontogeny and CNS environment establishes microglial identity","volume":"98","author":"Bennett","year":"2018","journal-title":"Neuron"},{"key":"2020021011131180800_awz390-B5","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1084\/jem.20180247","article-title":"Peripherally derived macrophages can engraft the brain independent of irradiation and maintain an identity distinct from microglia","volume":"215","author":"Cronk","year":"2018","journal-title":"J Exp Med"},{"key":"2020021011131180800_awz390-B6","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/brain\/aww066","article-title":"CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids","volume":"139","author":"Eichler","year":"2016","journal-title":"Brain"},{"key":"2020021011131180800_awz390-B7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state\u201d. 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