{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:22:57Z","timestamp":1791062577546,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,15]],"date-time":"2014-01-15T00:00:00Z","timestamp":1389744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>Intermediate alleles (<jats:styled-content style=\"fixed-case\">IAs<\/jats:styled-content>) for Huntington disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) contain 27\u201335 <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeats, a range that falls just below the disease threshold of 36 repeats. While there is no firm evidence that <jats:styled-content style=\"fixed-case\">IAs<\/jats:styled-content> confer the <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> phenotype, they are prone to germline <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat instability, particularly repeat expansion when paternally transmitted. Consequently, offspring may inherit a new mutation and develop the disease later in life. Over the last 5\u2009years there has been a renewed interest in <jats:styled-content style=\"fixed-case\">IAs<\/jats:styled-content>. This article provides an overview of the latest research on <jats:styled-content style=\"fixed-case\">IAs<\/jats:styled-content>, including their clinical implications, frequency, haplotype, and likelihood of <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat expansion, as well as patient understanding and current genetic counselling practices. The implications of this growing evidence base for clinical practice are also highlighted. These evidence\u2010based genetic counselling implications may help ensure individuals with an <jats:styled-content style=\"fixed-case\">IA<\/jats:styled-content> predictive test result receive appropriate support, education, and counselling.<\/jats:p>","DOI":"10.1111\/cge.12324","type":"journal-article","created":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T19:17:02Z","timestamp":1384975022000},"page":"303-311","source":"Crossref","is-referenced-by-count":36,"title":["Evidence\u2010based genetic counselling implications for Huntington disease intermediate allele predictive test results"],"prefix":"10.1111","volume":"85","author":[{"given":"A.","family":"Semaka","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.R.","family":"Hayden","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,15]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Huntington disease","author":"Harper PS","year":"1991"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.8.1533"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000106165.74751.15"},{"issue":"1","key":"e_1_2_8_6_1","first-page":"16","article-title":"Phenotypic characterization of individuals with 30\u201340 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201339 repeats","volume":"59","author":"Rubinsztein DC","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00093.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.4.801"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.5.579"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-174"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00668.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1911"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01900.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21958"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.170902"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.11.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21195"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23623"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21820"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0343-8"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01388.x"},{"key":"e_1_2_8_22_1","article-title":"High frequency of intermediate alleles on Huntington disease\u2010associated haplotypes in British Columbia's general population","author":"Semaka A","journal-title":"Am J Med Genet B Neuropsychiatr"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318294b304"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.3810\/pgm.2011.09.2466"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.128"},{"issue":"1","key":"e_1_2_8_26_1","article-title":"Maternal Intermediate Repeat Expansion into the Affected Range in Huntington's Disease","volume":"76","author":"van Belzen M","year":"2009","journal-title":"Clin Genet"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30970"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101796"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00241.x"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.e12"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9533-7"},{"key":"e_1_2_8_32_1","unstructured":"Human Genetics Society of Austalasia. 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