{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T15:28:32Z","timestamp":1786634912646,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871000"],"award-info":[{"award-number":["81871000"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901294"],"award-info":[{"award-number":["81901294"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Recently, p.R383H in\n                      <jats:italic>TFG<\/jats:italic>\n                      was identified as the disease cause in a family with \u03b1\u2010synucleinopathy and amyotrophic lateral sclerosis (ALS). However, no further replication has been conducted in larger cohorts.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The aim was to explore the genetic role of\n                      <jats:italic>TFG<\/jats:italic>\n                      in \u03b1\u2010synucleinopathy and ALS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analyzed the rare protein\u2010coding variants in patients with Parkinson's disease (PD), ALS, multiple system atrophy (MSA), spastic paraplegia (N\u00a0=\u00a02709), and 7536 controls with whole\u2010exome sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Nine rare variants were identified in PD and two in MSA. One PD patient carried the same variant p.R383H. Similarly, this patient developed early\u2010onset PD with bradykinesia and rigidity on the left side as the initial symptoms. However, at the gene level, rare variants of\n                      <jats:italic>TFG<\/jats:italic>\n                      were not enriched in patients\n                      <jats:italic>.<\/jats:italic>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Rare variants of\n                      <jats:italic>TFG<\/jats:italic>\n                      were not enriched in \u03b1\u2010synucleinopathy and ALS. However, we could not deny the potential pathogenicity of specific variants such as p.R383H. Further exploration is still necessary. \u00a9 2022 International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29079","type":"journal-article","created":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T01:34:50Z","timestamp":1654047290000},"page":"1756-1761","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutation Screening of\n                    <scp>\n                      <i>TFG<\/i>\n                    <\/scp>\n                    in\n                    <scp>\u03b1\u2010Synucleinopathy<\/scp>\n                    and Amyotrophic Lateral Sclerosis"],"prefix":"10.1002","volume":"37","author":[{"given":"Chunyu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5956-8301","authenticated-orcid":false,"given":"Junyu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9023-725X","authenticated-orcid":false,"given":"Xiaojing","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbing","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2671-2201","authenticated-orcid":false,"given":"Kuncheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qirui","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruwei","family":"Ou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bi","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics West China Hospital, Sichuan University  Chengdu 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