{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T01:06:33Z","timestamp":1768093593054,"version":"3.49.0"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 29-year-old man presented with rapidly progressive severe neck weakness, asymmetrical bilateral upper extremity weakness, bulbar dysfunction, profound muscle wasting, and weight loss. Within 1 year, his speech became unintelligible, he became gastrostomy- and tracheostomy\/ventilator-dependent, and wheelchair bound. Electrophysiology suggested motor neuron disease. Whole exome sequencing revealed a heterozygous pathogenic variant in the fused in sarcoma gene (FUS), c.1574C&amp;gt;T,p. R525L, consistent with autosomal dominant amyotrophic lateral sclerosis. Autopsy revealed extensive denervation atrophy of skeletal musculature. Surprisingly, there was only minimal patchy depletion of motor neurons within the cervico-thoracic spinal cord anterior horn cells, and the tracts were largely preserved. TDP-43 inclusions were absent. Abnormal expression of FUS mutation product (cytoplasmic inclusions) was demonstrated by immunohistochemistry within anterior horn motor neurons. The most prominent finding was a disparity between profound neck weakness and relatively low-grade anterior horn cell loss or tract degeneration in the cervico-thoracic cord.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa011","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T14:15:44Z","timestamp":1583504144000},"page":"365-369","source":"Crossref","is-referenced-by-count":7,"title":["Aggressive <i>FUS<\/i>-Mutant Motor Neuron Disease Without Profound Spinal Cord Pathology"],"prefix":"10.1093","volume":"79","author":[{"given":"Yan Chen","family":"Wongworawat","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin Allison","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology, Loma Linda University Children\u2019s Hospital , Loma Linda, 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