{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:55Z","timestamp":1791250555729,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dystonia is a genetically heterogenous disease and a prototype disorder where next\u2010generation sequencing has facilitated the identification of new pathogenic genes. This includes the first two genes linked to recessively inherited isolated dystonia, that is,\n                    <jats:italic>HPCA<\/jats:italic>\n                    (hippocalcin) and\n                    <jats:italic>COL6A3<\/jats:italic>\n                    (collagen VI alpha 3). These genes are proposed to underlie cases of the so\u2010called DYT2\u2010like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis. First, deficiency in\n                    <jats:italic>HPCA<\/jats:italic>\n                    function is thought to alter calcium homeostasis, a mechanism that has previously been forwarded for\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    and\n                    <jats:italic>ANO3<\/jats:italic>\n                    . The novel myoclonus\u2010dystonia genes\n                    <jats:italic>KCTD17<\/jats:italic>\n                    and\n                    <jats:italic>CACNA1B<\/jats:italic>\n                    also implicate abnormal calcium signaling in dystonia. Second, the phenotype in COL6A3\u2010loss\u2010of\u2010function zebrafish models argues for a neurodevelopmental defect, which has previously been suggested as a possible biological mechanism for\n                    <jats:italic>THAP1<\/jats:italic>\n                    ,\n                    <jats:italic>TOR1A<\/jats:italic>\n                    , and\n                    <jats:italic>TAF1<\/jats:italic>\n                    based on expression data. The newly reported myoclonus\u2010dystonia gene,\n                    <jats:italic>RELN<\/jats:italic>\n                    , plays also a role in the formation of brain structures. Defects in neurodevelopment likewise seem to be a recurrent scheme underpinning mainly complex dystonias, for example those attributable to biallelic mutations in\n                    <jats:italic>GCH1<\/jats:italic>\n                    ,\n                    <jats:italic>TH<\/jats:italic>\n                    ,\n                    <jats:italic>SPR<\/jats:italic>\n                    , or to heterozygous\n                    <jats:italic>TUBB4A<\/jats:italic>\n                    mutations. To date, it remains unclear whether dystonia is a common phenotypic outcome of diverse underlying disease mechanisms, or whether the different genetic causes converge in a single pathway. Importantly, the relevance of pathways highlighted by novel dystonia genes identified by high\u2010throughput sequencing depends on the confirmation of mutation pathogenicity in subsequent genetic and functional studies. However, independent, careful validation of genetic findings lags behind publications of newly identified genes. We conclude with a discussion on the characteristics of true\u2010positive reports. \u00a9 2016 International Parkinson and Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.26600","type":"journal-article","created":{"date-parts":[[2016,3,18]],"date-time":"2016-03-18T22:20:00Z","timestamp":1458339600000},"page":"471-477","source":"Crossref","is-referenced-by-count":55,"title":["Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High\u2010Throughput Sequencing"],"prefix":"10.1002","volume":"31","author":[{"given":"Aloysius","family":"Domingo","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of Luebeck Luebeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Erro","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom"},{"name":"Dipartimento di Scienze 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