{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:29:11Z","timestamp":1791912551346,"version":"4.3.4"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.<\/jats:p>","DOI":"10.1177\/2329048x211036137","type":"journal-article","created":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T08:50:34Z","timestamp":1628153434000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review"],"prefix":"10.1177","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3442-7382","authenticated-orcid":false,"given":"Ashley A.","family":"Moeller","sequence":"first","affiliation":[{"name":"Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia V.","family":"Felker","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Brault","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura C.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rizwan","family":"Hamid","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9707-6735","authenticated-orcid":false,"given":"Meredith R.","family":"Golomb","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"bibr1-2329048X211036137","unstructured":"Caron NS, Wright GEB, Hayden MR. 1998 Oct 23 [Updated 2020 Jun 11]. Huntington disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2021. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1305\/"},{"key":"bibr2-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.2310\/7010.2006.00055"},{"key":"bibr3-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10090575"},{"key":"bibr4-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.018"},{"key":"bibr5-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00108.x"},{"key":"bibr6-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.2217\/nmt.13.18"},{"key":"bibr7-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000238390.86304.4e"},{"key":"bibr8-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198511000-00003"},{"key":"bibr9-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-018-4167-z"},{"key":"bibr10-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33911"},{"key":"bibr11-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25413"},{"key":"bibr12-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.6.813"},{"key":"bibr13-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-3680"},{"key":"bibr14-2329048X211036137","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809343315"},{"key":"bibr15-2329048X211036137","unstructured":"Undiagnosed Diseases Network. @UDNconnect. https:\/\/undiagnosed.hms.harvard.edu\/. Published 2021. Accessed 4\/5\/21."}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X211036137","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X211036137","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X211036137","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:58:09Z","timestamp":1777391889000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X211036137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":15,"alternative-id":["10.1177\/2329048X211036137"],"URL":"https:\/\/doi.org\/10.1177\/2329048x211036137","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]},"article-number":"2329048X211036137"}}