{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T14:16:57Z","timestamp":1791555417657,"version":"4.3.4"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,19]],"date-time":"2020-04-19T00:00:00Z","timestamp":1587254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81460199"],"award-info":[{"award-number":["81460199"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in the fused in sarcoma (FUS) gene have been associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor. Among the\n                      <jats:italic>FUS<\/jats:italic>\n                      mutations, p.P525L as a hot spot variant has been reported in more than 20 patients with ALS. Apart from the typical ALS phenotype, patients with p.P525L mutation exhibit some atypical symptoms. However, movement disorders related to p.P525L mutation have not been emphasized currently.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Two unrelated patients with ALS were evaluated through a set of clinical and laboratory tests. The genetic screening was performed through next\u2010generation sequencing. Muscle biopsies were performed on the 2 patients. Muscle samples were stained according to standard histological and immunohistochemical procedures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The first patient presented with juvenile\u2010onset neurogenic weakness and wasting and simultaneously had dropped head, ophthalmoplegia, tremor, involuntary movements, and cognitive impairments. The second patient showed a typical ALS phenotype and prominent adventitious movements. Genetic screening disclosed de novo p.P525L\n                      <jats:italic>FUS<\/jats:italic>\n                      mutation in the 2 patients by family cosegregation analysis. Muscle biopsy showed neurogenic patterns and numerous lipid droplets aggregating in the fibers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Apart from the typical ALS phenotype, patients with p.P525L mutation in the\n                      <jats:italic>FUS<\/jats:italic>\n                      gene can present with great clinical heterogeneity including multiple movement disorders. Numerous lipid droplets in muscle fibers indicate that skeletal muscle is likely an important therapeutic target for ALS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.1625","type":"journal-article","created":{"date-parts":[[2020,4,19]],"date-time":"2020-04-19T21:41:30Z","timestamp":1587332490000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["<i>FUS<\/i>\n                    P525L mutation causing amyotrophic lateral sclerosis and movement disorders"],"prefix":"10.1002","volume":"10","author":[{"given":"Binbin","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Center Ascension Seton Medical Center Austin Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lulu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meihong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pu","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-3534","authenticated-orcid":false,"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ed9cde"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.194399"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ce5dd6"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30401-5"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2009.05.001"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.08.003"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1806655115"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.01289"},{"issue":"3","key":"e_1_2_9_10_1","first-page":"278","article-title":"FUS\u2010ALS presenting with myoclonic jerks in a 17\u2010year\u2010old man","volume":"20","author":"Dodd K. 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