{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:36:32Z","timestamp":1787841392699,"version":"build-2784847793"},"reference-count":29,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:00:00Z","timestamp":1767916800000},"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":["Journal of Huntington's Disease"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Huntington's disease (HD) is a neurodegenerative disorder caused by CAG expansions in the Huntingtin (\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      ) gene. Due to its non-specific and variable phenotype, diagnosis requires clinical assessments and genetic testing. In the Caribbean, the genetic etiology of HD is underexplored due to the unavailability of genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      We investigated whether 32 participants from four multigenerational families from Trinidad and Tobago (T&amp;T) presenting with Huntington-like symptoms carried\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      CAG expansions, and whether CAG length was related to decreasing age of onset with each generation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Participants were genotyped using triplet repeat primed PCR followed by previously-established fragment analysis and a nanopore sequencing based method with a custom bioinformatics workflow.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All symptomatic participants carried\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      CAG expansions (42\u201357 CAGs), confirming HD. Among participants aged 20\u201365 years (n\u2009=\u200924), clinical and genetic diagnoses were concordant for 22 participants (13 symptomatic with 42\u201357 CAGs, and nine asymptomatic with 13\u201327 CAGs). Two asymptomatic participants aged 22 and 43 years carried 46\u201347 and 37\u201339 CAGs, respectively. Among eight participants &lt;18 years, one symptomatic 16-year-old carried 49\u201350 CAGs, and seven are currently asymptomatic (three with 50\u201352 CAGs, and four with 14\u201317 CAGs). In three families, decreasing age of onset and increasing CAG length were observed in each successive generation. Methods were highly correlated (R\n                      <jats:sup>2<\/jats:sup>\n                      \u2009=\u20090.998).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We demonstrated the application of nanopore sequencing with a custom bioinformatics workflow to estimate the size of\n                      <jats:italic toggle=\"yes\">HTT<\/jats:italic>\n                      CAG repeats. This is the first genetic report of HD in T&amp;T, among limited records in the Caribbean.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/18796397251407656","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:53:47Z","timestamp":1767984827000},"page":"375-385","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular diagnosis of Huntington's disease in Trinidadian families via triplet repeat primed PCR, fragment analysis, and nanopore sequencing"],"prefix":"10.1177","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2450-0433","authenticated-orcid":false,"given":"Shavana Nicole","family":"Rajkumar","sequence":"first","affiliation":[{"name":"Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5751-7567","authenticated-orcid":false,"given":"Chris","family":"Gyan","sequence":"additional","affiliation":[{"name":"Sangre Grande Hospital, Eastern Regional Health Authority, Sangre Grande, Trinidad &amp; Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2313-2693","authenticated-orcid":false,"given":"Damion","family":"Basdeo","sequence":"additional","affiliation":[{"name":"Sangre Grande Hospital, Eastern Regional Health Authority, Sangre Grande, Trinidad &amp; Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4423-2990","authenticated-orcid":false,"given":"Nemal","family":"Gokool","sequence":"additional","affiliation":[{"name":"Sangre Grande Hospital, Eastern Regional Health Authority, Sangre Grande, Trinidad &amp; Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4146-3920","authenticated-orcid":false,"given":"Arianne Brown","family":"Jordan","sequence":"additional","affiliation":[{"name":"Department of Preclinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3860-3994","authenticated-orcid":false,"given":"Soren","family":"Nicholls","sequence":"additional","affiliation":[{"name":"Department of Preclinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8280-7275","authenticated-orcid":false,"given":"Vijay","family":"Pradeep","sequence":"additional","affiliation":[{"name":"Virtana TT Ltd, St. Augustine, Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6644-8874","authenticated-orcid":false,"given":"Rajini Rani","family":"Haraksingh","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,1,9]]},"reference":[{"key":"e_1_3_3_2_2","first-page":"34","article-title":"Huntington\u2019s disease","volume":"341","author":"Novak MJU","year":"2010","unstructured":"Novak MJU, Tabrizi SJ. 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