{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:09:28Z","timestamp":1792080568943,"version":"4.4.0"},"reference-count":26,"publisher":"The Korean Movement Disorder Society","issue":"2","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Mayo Clinic Florida Department of Neurology"}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:p>Objective Colony-stimulating factor-1 receptor (&lt;i&gt;CSF1R&lt;\/i&gt;)-related disorder (CSF1R-RD) is a rapidly progressive neurodegenerative disease with a median onset of 43 years. More than 200 &lt;i&gt;CSF1R&lt;\/i&gt; pathogenic variants have been identified. Patients develop rapidly progressive dementia and motor symptoms, with a median disease duration of 6.8 years. The p.R777Q variant causes CSF1R-RD; it is deleterious to protein function. We describe the clinical and pathological features of CSF1R-RD associated with p.R777Q and report a new family carrying this variant. We compare the neuropathological findings of an index patient (with short-duration disease) with those of a patient with long-duration CSF1R-RD.Methods We present clinical and imaging data from a new family with p.R777Q. We also describe the neuropathology of an index patient and contrast these findings with features of a patient with CSF1R-RD with an 11-year disease course caused by the c.2656_2657insC variant.Results We reviewed the literature on 13 individuals from 8 families with the p.R777Q variant from Asia, Europe, and North America. The mean age at onset was 41\u00b114 years, ranging from 22 to 63 years, and the mean survival was 3.3\u00b12.5 years. Neuropathologic studies of our index patient (10-month disease duration) revealed features consistent with CSF1R-RD. Axonal and myelin pathology was severe in the periventricular white matter. Compared with the patient with an 11-year disease duration, the index patient had less severe white matter lesions.Conclusion Compared with CSF1R-RD associated with other variants, the p.R777Q variant has an aggressive course. Compared with the patient with a long disease duration, the index patient had milder neuropathological findings. These differences may be specific to p.R777Q or associated with rapid clinical progression.<\/jats:p>","DOI":"10.14802\/jmd.25247","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T06:09:17Z","timestamp":1763100557000},"page":"135-144","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Pathological Features of CSF1R-Related Disorder Associated With the p.R777Q Pathogenic Variant"],"prefix":"10.14802","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6022-7731","authenticated-orcid":true,"given":"Tomasz","family":"Chmiela","sequence":"first","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Jacksonville, FL, USA"},{"name":"Department of Neurology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5568-310X","authenticated-orcid":true,"given":"Delaney","family":"Liskey","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"},{"name":"Regenerative Sciences Ph.D. Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4734-0339","authenticated-orcid":true,"given":"Audrey J.","family":"Strongosky","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8158-8835","authenticated-orcid":true,"given":"Stuart J.","family":"McCarter","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Rochester, MN, USA"},{"name":"Mayo Center for Sleep Medicine, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4208-1230","authenticated-orcid":true,"given":"Paula","family":"Sandroni","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7189-7917","authenticated-orcid":true,"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5487-1053","authenticated-orcid":true,"given":"Zbigniew K.","family":"Wszolek","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Jacksonville, FL, 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