{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:48:16Z","timestamp":1791874096303,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1U54NS148312"],"award-info":[{"award-number":["1U54NS148312"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6\u2010year\u2010old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar\u2010predominant atrophy with an initially normal\u2010appearing striatum. Extensive metabolic testing, exome sequencing, and an ataxia repeat expansion panel were nondiagnostic. Research genome sequencing identified a large pathogenic huntingtin CAG repeat expansion that confirmatory testing sized beyond 180 repeats. This case illustrates a cerebellar\u2010predominant imaging signature of extreme repeat expansions and the limitations of exome sequencing for detecting them.<\/jats:p>","DOI":"10.1002\/acn3.70554","type":"journal-article","created":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:06:09Z","timestamp":1791871569000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Juvenile Huntington Disease With Cerebellar\u2010Predominant Atrophy Identified by Genome Sequencing"],"prefix":"10.1002","author":[{"given":"Enrique","family":"Gonzalez Saez\u2010Diez","sequence":"first","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Medical Faculty Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2072-3436","authenticated-orcid":false,"given":"Amy","family":"Tam","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siofra","family":"Carty","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Ferrer Socorro","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6892-5189","authenticated-orcid":false,"given":"Kathryn","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"additional","affiliation":[{"name":"Department of Neurology &amp; F.M. Kirby Neurobiology Center, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Spastic Paraplegia\u2014Centers of Excellence Research Network (SP\u2010CERN) Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,12]]},"reference":[{"issue":"10","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1002\/acn3.52193","article-title":"Juvenile\u2010Onset Huntington's Disease\u2014Spectrum and Evolution of Presenting Movement Disorders","volume":"11","author":"Yang K.","year":"2024","journal-title":"Annals of Clinical Translational Neurology"},{"issue":"9","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","DOI":"10.3390\/brainsci10090575","article-title":"The Association Between CAG Repeat Length and Age of Onset of Juvenile\u2010Onset Huntington's Disease","volume":"10","author":"Schultz J. L.","year":"2020","journal-title":"Brain Sciences"},{"issue":"22","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"4754","DOI":"10.1093\/bioinformatics\/btz431","article-title":"ExpansionHunter: A Sequence\u2010Graph\u2010Based Tool to Analyze Variation in Short Tandem Repeat Regions","volume":"35","author":"Dolzhenko E.","year":"2019","journal-title":"Bioinformatics"},{"issue":"4","key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"218","DOI":"10.31486\/toj.25.0052","article-title":"Reading Between the Striatal Lines: Magnetic Resonance Imaging Insights Into Huntington Disease","volume":"25","author":"Boothe R.","year":"2025","journal-title":"Ochsner Journal"},{"issue":"14","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1002\/mds.25237","article-title":"Seizures in Juvenile Huntington's Disease: Frequency and Characterization in a Multicenter Cohort","volume":"27","author":"Cloud L. J.","year":"2012","journal-title":"Movement Disorders"},{"issue":"4","key":"e_1_2_12_7_1","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.a.33911","article-title":"Juvenile Huntington Disease in an 18\u2010Month\u2010Old Boy Revealed by Global Developmental Delay and Reduced Cerebellar Volume","volume":"155","author":"Nicolas G.","year":"2011","journal-title":"American Journal of Medical Genetics\u2014Seminars in Medical Genetics, Part A"},{"issue":"4","key":"e_1_2_12_8_1","first-page":"337","article-title":"Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease With Cerebellar Atrophy: A Report of a Father and Son","volume":"6","author":"Latimer C. S.","year":"2017","journal-title":"Journal of Huntingtons Dis"},{"issue":"10","key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1007\/s00247-018-4167-z","article-title":"Morphological Features in Juvenile Huntington Disease Associated With Cerebellar Atrophy\u2014Magnetic Resonance Imaging Morphometric Analysis","volume":"48","author":"Hedjoudje A.","year":"2018","journal-title":"Pediatric Radiology"},{"issue":"17","key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"e1939","DOI":"10.1212\/WNL.0000000000007355","article-title":"Brain Structure in Juvenile\u2010Onset Huntington Disease","volume":"92","author":"Tereshchenko A.","year":"2019","journal-title":"Neurology"},{"key":"e_1_2_12_11_1","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.1089193","article-title":"Case Report: Cerebellar Sparing in Juvenile Huntington's Disease","volume":"13","author":"Santos\u2010Lobato B. L.","year":"2023","journal-title":"Frontiers in Neurology"},{"key":"e_1_2_12_12_1","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/brain\/awag050","article-title":"Diagnostic Yield of Genome Sequencing in Children With Progressive Movement Disorders","volume":"149","author":"Schierbaum L.","year":"2026","journal-title":"Brain"},{"key":"e_1_2_12_13_1","doi-asserted-by":"crossref","DOI":"10.1177\/2329048X211036137","article-title":"Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review","volume":"8","author":"Moeller A. A.","year":"2021","journal-title":"Child Neurology Open"},{"issue":"1","key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1034\/j.1399-0004.2003.00108.x","article-title":"XL PCR for the Detection of Large Trinucleotide Expansions in Juvenile Huntington's Disease","volume":"64","author":"Milunsky J. M.","year":"2003","journal-title":"Clinical Genetics"},{"key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"577","DOI":"10.5334\/tohm.439","article-title":"Dentatorubral\u2010Pallidoluysian Atrophy: An Update","volume":"8","author":"Carroll L. S.","year":"2018","journal-title":"Tremor and Other Hyperkinetic Movements"},{"issue":"10","key":"e_1_2_12_16_1","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/nrn.2017.92","article-title":"Polyglutamine Spinocerebellar Ataxias \u2010 From Genes to Potential Treatments","volume":"18","author":"Paulson H. L.","year":"2017","journal-title":"Nature Reviews. 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