{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T07:44:47Z","timestamp":1791791087667,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T00:00:00Z","timestamp":1791676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T00:00:00Z","timestamp":1791676800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR26428\/MED\/12\/783\/2017"],"award-info":[{"award-number":["BT\/PR26428\/MED\/12\/783\/2017"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      DYT\u2010\n                      <jats:italic>THAP1<\/jats:italic>\n                      is a recognized cause of early\u2010onset isolated dystonia. However, available data are largely derived from European cohorts, limiting understanding of genetic diversity, phenotype variability, and treatment response in underrepresented populations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To characterize the clinical spectrum, genetic architecture, genotype\u2013phenotype correlations, and treatment outcomes in Asian Indian patients with DYT\u2010\n                      <jats:italic>THAP1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This multicentric, cross\u2010sectional study included patients harboring pathogenic or likely pathogenic\n                      <jats:italic>THAP1<\/jats:italic>\n                      variants. Clinical features, neuroimaging, and treatment responses were systematically assessed. Genetic testing comprised whole\u2010exome sequencing, clinical exome sequencing, targeted gene panels, or Sanger sequencing. Variants were classified using ACMG criteria, and genotype\u2013phenotype associations were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty\u2010six patients from 22 families were identified (17 males; mean age 29.4\u2009\u00b1\u200912.9\u2009years). Median age at onset was 13.0\u2009years (IQR 10.0\u201323.5), with 69.2% presenting before 20\u2009years. Dystonia commonly involved the upper limbs (68%), cervical region (28%), and larynx (20%) at onset, with progression to generalized dystonia in 64%. Seventeen distinct heterozygous\n                      <jats:italic>THAP1<\/jats:italic>\n                      variants were detected, of which 10 (58.8%) were novel. Loss\u2010of\u2010function variants affected 57.7% of patients and were associated with greater motor severity (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.023) and more frequent positive family history (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.019). Exon 2 variants were more frequent in patients with tremor (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.045).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study highlights the evolving mutational landscape of DYT\u2010\n                      <jats:italic>THAP1<\/jats:italic>\n                      beyond variants reported in Caucasian pedigrees and demonstrates novel, clinically relevant genotype\u2013phenotype associations, underscoring the value of including underrepresented populations to bridge knowledge gaps in rare diseases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70863","type":"journal-article","created":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T06:46:29Z","timestamp":1791787589000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013Phenotype Correlations in\n                    <scp>\n                      <i>THAP1<\/i>\n                    <\/scp>\n                    \u2010Associated Dystonia: A Multicentric Observational Study"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5223-9206","authenticated-orcid":false,"given":"Arti","family":"Saini","sequence":"first","affiliation":[{"name":"All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2837-7662","authenticated-orcid":false,"given":"Kamalesh","family":"Tayade","sequence":"additional","affiliation":[{"name":"Lokmanya Tilak Municipal Medical 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