{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:08:32Z","timestamp":1788847712274,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100014434","name":"Narodowa Agencja Wymiany Akademickiej","doi-asserted-by":"publisher","award":["BPN\/WAL\/2024\/1\/00042\/U\/00001"],"award-info":[{"award-number":["BPN\/WAL\/2024\/1\/00042\/U\/00001"]}],"id":[{"id":"10.13039\/501100014434","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic colony\u2010stimulating factor 1 receptor (\n                    <jats:italic>CSF1R<\/jats:italic>\n                    ) variants are a major cause of early\u2010onset\n                    <jats:italic>CSF1R<\/jats:italic>\n                    \u2010related disorder (CSF1R\u2010RD), although fewer than 30 cases have been reported and genotype\u2013phenotype correlations remain unclear. The aim of this study was to characterize the clinical, radiological, and genetic features of patients with brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Six patients with biallelic\n                    <jats:italic>CSF1R<\/jats:italic>\n                    variants underwent detailed clinical, neurological, and magnetic resonance imaging evaluation. Three siblings with a homozygous p.Gly585Val variant showed marked phenotypic variability, ranging from severe childhood\u2010onset neurodegeneration to an asymptomatic presentation, all with white matter abnormalities. Three unrelated patients carried different biallelic\n                    <jats:italic>CSF1R<\/jats:italic>\n                    variants and presented with congenital skeletal abnormalities or early\u2010onset neurological disease of variable severity. These cases broaden the phenotypic spectrum of biallelic CSF1R\u2010RD and demonstrate that disease severity cannot be predicted solely by genotype, suggesting an important role for genetic or environmental modifiers.\n                  <\/jats:p>","DOI":"10.1111\/dmcn.70515","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T05:52:12Z","timestamp":1788846732000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Colony\u2010stimulating factor 1 receptor\u2010related disorder: Clinical variability of biallelic variants"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4197-8518","authenticated-orcid":false,"given":"Lukasz","family":"Milanowski","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"},{"name":"Department of Neurology, Faculty of Health Science Medical University of Warsaw  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josiane","family":"Souza","sequence":"additional","affiliation":[{"name":"School of Medicine Pontifical Catholic University of Paran\u00e1  Curitiba Brazil"},{"name":"Department of Genetics Pequeno Pr\u00edncipe Children's Hospital  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara Lucia Schmitz Ferreira","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Pequeno Pr\u00edncipe Children's Hospital  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helio G.","family":"Teive","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Cl\u00ednicas The Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John K.","family":"Fink","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Orthmann\u2010Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaley","family":"Arnold","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaros\u0142aw","family":"Dulski","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"},{"name":"Department of Neurology, Neurodegenerative Diseases and Neuroimmunology, Faculty of Health Sciences Medical University of Gdansk  Gdansk Poland"},{"name":"Neurology Department, St Adalbert Hospital Copernicus PL Ltd.  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CSF1R\u2010RD Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5487-1053","authenticated-orcid":false,"given":"Zbigniew K.","family":"Wszolek","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.parkreldis.2023.105894","article-title":"CSF1R\u2010related disorder: State of the art, challenges, and proposition of a new terminology","volume":"121","author":"Dulski J","year":"2024","journal-title":"Parkinsonism Relat Disord."},{"issue":"5","key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.ajhg.2019.03.004","article-title":"Bi\u2010allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis\u2010Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation","volume":"104","author":"Guo L","year":"2019","journal-title":"Am J Hum Genet."},{"issue":"5","key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/j.ajhg.2019.03.010","article-title":"Homozygous Mutations in CSF1R Cause a Pediatric\u2010Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia","volume":"104","author":"Oosterhof N","year":"2019","journal-title":"Am J Hum Genet."},{"issue":"1","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1186\/s13023-023-02772-9","article-title":"Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R\u2010ALSP","volume":"18","author":"Dulski J","year":"2023","journal-title":"Orphanet J Rare Dis."},{"issue":"5","key":"e_1_2_7_6_1","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200187","article-title":"Global Presence and Penetrance of CSF1R\u2010Related Disorder","volume":"10","author":"Dulski J","year":"2024","journal-title":"Neurol Genet."},{"issue":"11","key":"e_1_2_7_7_1","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63800","article-title":"Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings","volume":"194","author":"Beerepoot S","year":"2024","journal-title":"Am J Med Genet A."},{"issue":"3","key":"e_1_2_7_8_1","first-page":"183","article-title":"Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)","volume":"13","author":"Daghagh H","year":"2023","journal-title":"Bioimpacts."},{"issue":"1","key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1385\/CBB:34:1:001","article-title":"Transcriptional regulation of c\u2010fms gene expression","volume":"34","author":"Xie Y","year":"2001","journal-title":"Cell Biochem Biophys."},{"issue":"5","key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"444","DOI":"10.5603\/pjnns.97373","article-title":"Potential use of glucocorticosteroids in CSF1R mutation carriers \u2010 current evidence and future directions","volume":"57","author":"Dulski J","year":"2023","journal-title":"Neurol Neurochir Pol."},{"key":"e_1_2_7_11_1","article-title":"Apolipoprotein E Polymorphism Is Associated with Age of Onset and Neuropathology in Colony Stimulating Factor 1 Receptor\u2010Related Disorder","author":"Chmiela T","year":"2026","journal-title":"Mov Disord."},{"issue":"1","key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/ene.13125","article-title":"Clinical and genetic characterization of adult\u2010onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation","volume":"24","author":"Konno T","year":"2017","journal-title":"Eur J Neurol."},{"issue":"1","key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jns.2012.03.012","article-title":"Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report","volume":"318","author":"Kinoshita M","year":"2012","journal-title":"J Neurol Sci."},{"issue":"10","key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/gim.2017.22","article-title":"Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation","volume":"19","author":"Monies D","year":"2017","journal-title":"Genetics in Medicine."},{"issue":"12","key":"e_1_2_7_15_1","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1038\/s10038-021-00942-w","article-title":"From HDLS to BANDDOS: fast\u2010expanding phenotypic spectrum of disorders caused by mutations in CSF1R","volume":"66","author":"Guo L","year":"2021","journal-title":"Journal of Human Genetics."},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.pediatrneurol.2020.08.009","article-title":"Bone Disease Associated With Hereditary Diffuse Leukoencephalopathy With Spheroids","volume":"112","author":"Breningstall GN","year":"2020","journal-title":"Pediatr Neurol."},{"issue":"2","key":"e_1_2_7_17_1","doi-asserted-by":"crossref","first-page":"311","DOI":"10.4103\/aian.aian_418_21","article-title":"CSF1R Related Leukoencephalopathy \u2010 Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!","volume":"25","author":"Sriram N","year":"2022","journal-title":"Ann Indian Acad Neurol."},{"issue":"4","key":"e_1_2_7_18_1","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1055\/s-0040-1702161","article-title":"A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration","volume":"51","author":"Tamhankar PM","year":"2020","journal-title":"Neuropediatrics."}],"container-title":["Developmental Medicine &amp; Child 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