{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T08:13:05Z","timestamp":1794384785739,"version":"4.9.0"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T00:00:00Z","timestamp":1615161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Establishing the diagnosis of Huntington\u2019s disease (HD) involves molecular genetic testing and estimation of the number of CAG repeats.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>We report a 42\u2010year\u2010old patient with clinical phenotype suggestive of HD, who was repeatedly negative on genetic testing for HD at a reference laboratory. He had positive history of similar symptoms in his father, but not in other family members. During a 2\u2010year follow\u2010up his symptoms slowly deteriorated (videos attached). The family history was misleading, as we discovered that patient\u2019s father was adopted as infant. Having excluded HD\u2010like disorders and other causes of the symptoms we hypothesized that the primer could not bind to the mutated allele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The PCR reaction with primers HD1 and Hu3 revealed homozygosity of the other adjacent microsatellite tract consisting of the CCG repeats. The newly designed set of primers, located outside of the CAG tract (HD6extF, HD7extR) was used and enabled amplification of the mutant allele and detection of the abnormal range of CAG repeats.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>As application of the novel primers led to the diagnosis of HD in other 5 patients previously tested negative, we propose their incorporation into routine genetic testing in patients suspected of HD displaying homoallelism in the standard protocol.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14772","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T07:35:27Z","timestamp":1613115327000},"page":"2103-2105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["False\u2010negative tests in Huntington's disease: A new variant within primer hybridization site"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5517-9875","authenticated-orcid":false,"given":"Jaroslaw","family":"Dulski","sequence":"first","affiliation":[{"name":"Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences Medical University of Gdansk Gdansk Poland"},{"name":"Neurology Department, St Adalbert Hospital Copernicus PL Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sulek","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Psychiatry and Neurology Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Krygier","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology University Clinical Centre, Medical University of Gdansk Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiktoria","family":"Radziwonik","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Psychiatry and Neurology Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaroslaw","family":"Slawek","sequence":"additional","affiliation":[{"name":"Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences Medical University of Gdansk Gdansk Poland"},{"name":"Neurology Department, St Adalbert Hospital Copernicus PL Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13413"},{"key":"e_1_2_8_3_1","first-page":"255","volume-title":"Handbook of Clinical Neurology","author":"Ghosh R","year":"2018"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.200"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2013.05.009"},{"key":"e_1_2_8_6_1","first-page":"475","article-title":"Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene","volume":"59","author":"Gellera C","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302209"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1821"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14772","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14772","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14772","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T01:10:26Z","timestamp":1693617026000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14772"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,8]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1111\/ene.14772"],"URL":"https:\/\/doi.org\/10.1111\/ene.14772","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,8]]},"assertion":[{"value":"2021-01-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}