{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T05:18:45Z","timestamp":1741324725823,"version":"3.38.0"},"reference-count":16,"publisher":"Media Sphere Publishing House","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["S.S. Korsakov J. Neuro. Psych."],"published-print":{"date-parts":[[2025,3,6]]},"abstract":"<jats:p>Adult leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurological disease characterized by brain white matter demyelination, axonal edema, and glial cell pigmentation. The disease is associated with mutations in the CSF1R gene encoding the colony-stimulating factor 1 receptor. Adult leukoencephalopathy with axonal spheroids and pigmented glia is characterized by cognitive and motor disorders, rapid steady progression, and an autosomal dominant inheritance. The variability and nonspecificity of the clinical manifestations of this condition cause a high rate of misdiagnosis of diseases such as Alzheimer\u2019s disease, frontotemporal dementia, Parkinson\u2019s disease, multiple sclerosis, normotensive hydrocephalus, Creutzfeldt-Jakob disease, etc. The true prevalence of the disease is unknown due to the low awareness of doctors, and therefore, a significant proportion of cases remain unrecognized. The article presents the authors\u2019 observation of a family case of adult leukoencephalopathy with axonal spheroids and pigmented glia, identified by targeted panel sequencing.<\/jats:p>","DOI":"10.17116\/jnevro2025125021130","type":"journal-article","created":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T16:08:52Z","timestamp":1741277332000},"page":"130","source":"Crossref","is-referenced-by-count":0,"title":["Adult leukoencephalopathy with axonal spheroids and pigmented glia"],"prefix":"10.17116","volume":"125","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2529-8005","authenticated-orcid":false,"given":"U.N.","family":"Rushkevich","sequence":"first","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6597-1267","authenticated-orcid":false,"given":"T.S.","family":"Pavlovskaya","sequence":"additional","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2464-1082","authenticated-orcid":false,"given":"O.N.","family":"Levshuk","sequence":"additional","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0396-8603","authenticated-orcid":false,"given":"D.A.","family":"Antonenko","sequence":"additional","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6019-042X","authenticated-orcid":false,"given":"S.A.","family":"Likhachev","sequence":"additional","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3557-2655","authenticated-orcid":false,"given":"E.V.","family":"Malgina","sequence":"additional","affiliation":[{"name":"Republican Research and Clinical Center of Neurology and Neurosurgery","place":["Minsk, Republic of Belarus"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6743","reference":[{"key":"key-10.17116\/jnevro2025125021130-1","doi-asserted-by":"publisher","DOI":"10.53347\/rID-49286"},{"key":"key-10.17116\/jnevro2025125021130-2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.788168"},{"key":"key-10.17116\/jnevro2025125021130-3","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-018-3693-7"},{"key":"key-10.17116\/jnevro2025125021130-4","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006642"},{"key":"key-10.17116\/jnevro2025125021130-5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-305888"},{"key":"key-10.17116\/jnevro2025125021130-6","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.582"},{"key":"key-10.17116\/jnevro2025125021130-7","doi-asserted-by":"publisher","DOI":"10.1186\/s40035-019-0171-y"},{"key":"key-10.17116\/jnevro2025125021130-8","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-00947-0"},{"key":"key-10.17116\/jnevro2025125021130-9","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202012889"},{"key":"key-10.17116\/jnevro2025125021130-10","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13125"},{"key":"key-10.17116\/jnevro2025125021130-11","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23116341"},{"key":"key-10.17116\/jnevro2025125021130-12","unstructured":"Ruina YeA, Yulin VS, Smirnov AA, et al. Hereditary leukoencephalopathies, analysis of clinical cases. Trudnyy patsiyent. 2021;19(8):25-31. (In Russ.)"},{"key":"key-10.17116\/jnevro2025125021130-13","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.cn-001072"},{"key":"key-10.17116\/jnevro2025125021130-14","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7509-2"},{"key":"key-10.17116\/jnevro2025125021130-15","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A5744"},{"key":"key-10.17116\/jnevro2025125021130-16","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-8765-3"}],"container-title":["S.S. 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