{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:14:47Z","timestamp":1777392887493,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer's Disease Reports"],"published-print":{"date-parts":[[2023,11,1]]},"abstract":"<jats:p>Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron disease (MND). Here, we describe a 43-year-old man with progressive behavioral and cognitive change, myelopathy, clinical and electrophysiologic evidence of MND, and a FUS variant of unknown significance (VUS). This VUS, a heterozygous G559A transition (Gly187Ser), was previously reported in a patient with sporadic MND and affects important FUS biophysical properties. While this rare variant\u2019s presence in a second patient with a related neurodegenerative syndrome does not establish pathogenicity, it raises the question of whether its association with our patient is coincidental and increases the possibility that FUS G559A is pathogenic.<\/jats:p>","DOI":"10.3233\/adr-230103","type":"journal-article","created":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:41:16Z","timestamp":1696333276000},"page":"1121-1126","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report"],"prefix":"10.1177","volume":"7","author":[{"given":"Russell H.","family":"Swerdlow","sequence":"first","affiliation":[{"name":"University of Kansas Alzheimer\u2019s Disease Research Center, University of Kansas Medical Center, Kansas City, KS, USA"},{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA"},{"name":"Department of Cell Biology and Physiology, University of Kansas Medical Center, Kansas City, KS, USA"},{"name":"Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar","family":"Jawdat","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liskin","family":"Swint-Kruse","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Townley","sequence":"additional","affiliation":[{"name":"University of Kansas Alzheimer\u2019s Disease Research Center, University of Kansas Medical Center, Kansas City, KS, USA"},{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,10,3]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000172958.95282.2a"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.3.349"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-16-S8-S1"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2017.1332079"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.1000183"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2013.03.006"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.002"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1126\/science.1166066"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f07e0c"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00671-4"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-021-01271-2"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1038\/srep41329"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23876"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23933"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2019.09.022"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2018.02.004"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21665"}],"container-title":["Journal of Alzheimer's Disease Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/ADR-230103","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/ADR-230103","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/ADR-230103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:57:36Z","timestamp":1777370256000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/ADR-230103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,3]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,11,1]]}},"alternative-id":["10.3233\/ADR-230103"],"URL":"https:\/\/doi.org\/10.3233\/adr-230103","relation":{},"ISSN":["2542-4823","2542-4823"],"issn-type":[{"value":"2542-4823","type":"print"},{"value":"2542-4823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,3]]}}}