{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:25:35Z","timestamp":1787840735190,"version":"build-2784847793"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T00:00:00Z","timestamp":1749686400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic toggle=\"yes\">CSF1R<\/jats:italic>\n                    -related leukoencephalopathy is a rare, dominantly inherited leukoencephalopathy caused by mutations in the\n                    <jats:italic toggle=\"yes\">CSF1R<\/jats:italic>\n                    gene that codes for colony-stimulating factor 1 receptor. We describe the clinical and neuroimaging features in three genetically confirmed cases (two women) of\n                    <jats:italic toggle=\"yes\">CSF1R<\/jats:italic>\n                    -related leukoencephalopathy. The age at onset ranged from 41 to 45 years. Cognitive and behavioral disturbances were seen in all patients, and one patient had epilepsy. The movement disorders included parkinsonism, freezing of gait, cerebellar ataxia, tremors, etc., Pyramidal signs were noted in two patients. Magnetic resonance imaging of the brain showed signal changes in the white matter. Whole-exome sequencing revealed mutation in the\n                    <jats:italic toggle=\"yes\">CSF1R<\/jats:italic>\n                    gene, confirming the diagnosis. A combination of rapidly progressive cognitive and behavioral disturbances with involvement of pyramidal, extrapyramidal, and characteristic neuroimaging suggests diagnosis. Currently, the treatment is symptomatic as there is no specific treatment for the disease and a multidisciplinary team is required for managing these patients. Hematopoietic stem cell transplantation has shown to benefit a few patients.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_51_25","type":"journal-article","created":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T07:00:15Z","timestamp":1749711615000},"page":"596-598","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Movement Disorders in CSF1R-Related Leukoencephalopathy: A Case Series"],"prefix":"10.4103","volume":"28","author":[{"given":"Nitish","family":"Kamble","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RS","family":"Harishma","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram V","family":"Holla","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shweta","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitender","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod K","family":"Pal","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,6,12]]},"reference":[{"key":"R1-20250821","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/ng.1027","article-title":"Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids","volume":"44","author":"Rademakers","year":"2011","journal-title":"Nat Genet"},{"key":"R2-20250821","first-page":"1","article-title":"Hereditary diffuse leucoencephalopathy with spheroids","volume":"314","author":"Axelsson","year":"1984","journal-title":"Acta Psychiatr Scand Suppl"},{"key":"R3-20250821","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/ana.24650","article-title":"Whole exome sequencing in patients with white matter abnormalities","volume":"79","author":"Vanderver","year":"2016","journal-title":"Ann 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Disord"},{"key":"R7-20250821","doi-asserted-by":"crossref","DOI":"10.14802\/jmd.25004","article-title":"CSF1R-related adult-onset leukoencephalopathy with axonal spheroids: A case series of four Asian Indian patients","author":"Garg","year":"2025","journal-title":"J Mov Disord"},{"key":"R8-20250821","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/j.parkreldis.2013.05.013","article-title":"Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations","volume":"19","author":"Sundal","year":"2013","journal-title":"Parkinsonism Relat Disord"},{"key":"R9-20250821","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/ene.13125","article-title":"Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation","volume":"24","author":"Konno","year":"2017","journal-title":"Eur J Neurol"},{"key":"R10-20250821","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/joim.13420","article-title":"Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations","volume":"291","author":"Mickeviciute","year":"2022","journal-title":"J Int Med"},{"key":"R11-20250821","doi-asserted-by":"crossref","first-page":"2901","DOI":"10.1002\/mds.28734","article-title":"Treatment of CSF1R-related leukoencephalopathy: Breaking new ground","volume":"36","author":"Tipton","year":"2021","journal-title":"Mov Disord"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_51_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:27:57Z","timestamp":1787837277000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_51_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_51_25","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,12]]},"assertion":[{"value":"2025-01-17","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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