A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation

Movement Disorders Clinical PracticeEarly View CLINICAL VIGNETTES A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation Johanna Vercammen MD, Johanna Vercammen MD Department of Neurology, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorJoke Terryn MD, PhD, Joke Terryn MD, PhD Department of Neurology, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorSien Van Daele MD, PhD, Sien Van Daele MD, PhD Center for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorSascha Vermeer MD, PhD, Sascha Vermeer MD, PhD Center for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorWim Vandenberghe MD, PhD, Corresponding Author Wim Vandenberghe MD, PhD [email protected] orcid.org/0000-0002-9758-5062 Department of Neurology, University Hospitals Leuven, Leuven, Belgium Department of Neurosciences, KU Leuven, Leuven, Belgium Correspondence to: Dr. Wim Vandenberghe, Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; E-mail: [email protected]Search for more papers by this author Johanna Vercammen MD, Johanna Vercammen MD Department of Neurology, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorJoke Terryn MD, PhD, Joke Terryn MD, PhD Department of Neurology, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorSien Van Daele MD, PhD, Sien Van Daele MD, PhD Center for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorSascha Vermeer MD, PhD, Sascha Vermeer MD, PhD Center for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for more papers by this authorWim Vandenberghe MD, PhD, Corresponding Author Wim Vandenberghe MD, PhD [email protected] orcid.org/0000-0002-9758-5062 Department of Neurology, University Hospitals Leuven, Leuven, Belgium Department of Neurosciences, KU Leuven, Leuven, Belgium Correspondence to: Dr. Wim Vandenberghe, Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; E-mail: [email protected]Search for more papers by this author First published: 07 March 2024 https://doi.org/10.1002/mdc3.14013 Johanna Vercammen and Joke Terryn contributed equally to this study. Relevant disclosures and conflict of interest are listed at the end of this article. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Bhalsing KS, Sowmya V, Netravathi M, Jain S, Pal PK. Spinocerebellar ataxia (SCA) type 2 presenting with chorea. Parkinsonism Relat Disord 2013; 19: 1171–1172. https://doi.org/10.1016/j.parkreldis.2013.08.004. 10.1016/j.parkreldis.2013.08.004 PubMedWeb of Science®Google Scholar 2Gradstein L, Danek A, Grafman J, Fitzgibbon EJ. Eye movements in chorea-acanthocytosis. Invest Ophthalmol Vis Sci 2005; 46: 1979–1987. https://doi.org/10.1167/iovs.04-0539. 10.1167/iovs.04-0539 PubMedWeb of Science®Google Scholar 3Breedveld GJ, van Dongen JWF, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11: 971–979. https://doi.org/10.1093/hmg/11.8.971. 10.1093/hmg/11.8.971 CASPubMedWeb of Science®Google Scholar 4Rosati A, Berti B, Melani F, Cellini E, Procopio E, Guerrini R. Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. Dev Med Child Neurol 2015; 57: 777–779. https://doi.org/10.1111/dmcn.12644. 10.1111/dmcn.12644 PubMedWeb of Science®Google Scholar 5Breedveld GJ, Percy AK, MacDonald ME, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002; 59: 579–584. https://doi.org/10.1212/WNL.59.4.579. 10.1212/WNL.59.4.579 CASPubMedWeb of Science®Google Scholar 6Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription Factor-1 mutation. Mov Disord 2008; 23: 1744–1787. https://doi.org/10.1002/mds.22215. 10.1002/mds.22215 CASPubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation