{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:26:54Z","timestamp":1761006414663,"version":"build-2065373602"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T00:00:00Z","timestamp":1600473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In a Danish family, multiple individuals in five generations present with early\u2010onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To demonstrate linkage and to identify the underlying genetic cause of disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genome\u2010wide single\u2010nucleotide polymorphisms analysis, Sequence\u2010Tagged\u2010Site marker analyses, exome sequencing, and Sanger sequencing were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Linkage analyses identified a candidate locus on chromosome 9. Exome sequencing revealed a novel variant in <jats:italic>LMX1B<\/jats:italic> present in all affected individuals, logarithm of the odds (LOD) score of <jats:italic>z<\/jats:italic> =\u20096.54, predicted to be damaging. Nail\u2010patella syndrome (NPS) is caused by pathogenic variants in <jats:italic>LMX1B<\/jats:italic> encoding a transcription factor essential to cytoskeletal and kidney growth and dopaminergic and serotonergic network development. NPS is characterized by abnormal musculoskeletal features and kidney dysfunction. Movement disorders have not previously been associated with NPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Paroxysmal dyskinesia is a heretofore unrecognized feature of the NPS spectrum. The pathogenic mechanism might relate to aberrant dopaminergic circuits. \u00a9 2020 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society. This article has been contributed to by US Government employees and their work is in the public domain in the USA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28244","type":"journal-article","created":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T08:31:00Z","timestamp":1600504260000},"page":"2343-2347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Paroxysmal Cranial Dyskinesia and Nail\u2010Patella Syndrome Caused by a Novel Variant in the <scp><i>LMX1B<\/i><\/scp> Gene"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3991-5238","authenticated-orcid":false,"given":"Sara","family":"Bech","sequence":"first","affiliation":[{"name":"Department of Neurology Bispebjerg Hospital, University of Copenhagen  Copenhagen 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Clinical Genetics, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Mang","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mads","family":"Bak","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f8rgen E.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Danish 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