{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T10:08:16Z","timestamp":1781863696675,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,3,28]],"date-time":"2017-03-28T00:00:00Z","timestamp":1490659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003554","name":"Lundbeckfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:p>The Danish Huntington's Disease Registry (<jats:styled-content style=\"fixed-case\">DHR<\/jats:styled-content>) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) families of which the largest family includes 845 individuals in 8 generations. 1136 <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> and\/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> in Denmark was calculated to be 5\u20108:100 000. 1451 individuals in the <jats:styled-content style=\"fixed-case\">DHR<\/jats:styled-content> had the size of the <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat determined of which 975 had 36 <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeats or more (mean \u00b1 <jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content>: 43,5 \u00b1 4,8). Two unrelated individuals were compound heterozygous for alleles \u226536 <jats:styled-content style=\"fixed-case\">CAGs<\/jats:styled-content>, and 60 individuals from 34 independent families carried an intermediate allele.<\/jats:p>","DOI":"10.1111\/cge.12984","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T02:37:09Z","timestamp":1486089429000},"page":"338-341","source":"Crossref","is-referenced-by-count":10,"title":["The Danish <scp>HD<\/scp> Registry\u2014a nationwide family registry of <scp>HD<\/scp> families in Denmark"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1307-7926","authenticated-orcid":false,"given":"M.","family":"Gilling","sequence":"first","affiliation":[{"name":"Department of Neurogenetics, Institute of Cellular and Molecular Medicine, The Panum Institute University of Copenhagen  Copenhagen Denmark"},{"name":"The European Huntington's Disease Network University of Ulm  Ulm 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