{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:41:56Z","timestamp":1783953716522,"version":"3.55.0"},"reference-count":23,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:p>Benign hereditary chorea is a rare autosomal-dominant disorder that is characterized by childhood-onset nonprogressive chorea and normal cognitive function. Defects in NKX2-1 on chromosome 14q13, which encodes thyroid transcription factor 1, produce a concurrent clinical manifestation of chorea, respiratory distress, and hypothyroidism known as \u201cbrain\u2013lung\u2013thyroid syndrome.\u201d Here, the authors describe a video report of benign hereditary chorea in a Japanese female with a novel frameshift mutation of NKX2-1 (c.915_916insC) (p.Ala303ArgfsX132) that was initially misdiagnosed as ataxic cerebral palsy. In early infancy, especially before the appearance of chorea, benign hereditary chorea can be misdiagnosed as ataxic and dyskinetic cerebral palsy due to shared clinical features including motor delay, hypotonia, ataxic gait, and dystonia.<\/jats:p>","DOI":"10.1177\/2329048x16665012","type":"journal-article","created":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T20:28:54Z","timestamp":1472156934000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Video Report of Brain\u2013Lung\u2013Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the\n                    <i>NKX2-1<\/i>\n                    Gene"],"prefix":"10.1177","volume":"3","author":[{"given":"Takenori","family":"Tozawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Ayabe City Hospital, Ayabe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Yokochi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Kono","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Konishi","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Tokyo Women\u2019s Medical University Institute for Integrated Medical Sciences, Tokyo, 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