{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T10:26:12Z","timestamp":1787307972409,"version":"build-2736575974"},"reference-count":111,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ljubljana University Medical Centre"},{"id":[{"id":"https:\/\/ror.org\/01nr6fy72","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sci.","Brain Sciences"],"abstract":"<jats:p>Background: Juvenile-onset Huntington disease (JoHD) is a rare form of Huntington disease characterized by symptom onset at or before 20 years of age. Early manifestations are often non-choreic and may be attributed to developmental, psychiatric, movement, metabolic, or epileptic disorders. We described three molecularly confirmed cases and examined early manifestations, diagnostic pathways, and epilepsy. Methods: We conducted a retrospective case series and a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 systematic review of PubMed, Scopus, and Web of Science Core Collection through 5 July 2026. The strict patient-level synthesis required attributable onset at or before 20 years, patient-specific molecular confirmation of a pathogenic HTT repeat expansion, and extractable clinical data. Complementary aggregate or linked reports using closely aligned JoHD criteria were retained for context but excluded from patient-level calculations. Results: The cases included childhood-onset JoHD with drug-resistant epilepsy, adolescent-onset JoHD with progressive motor-cognitive decline and epilepsy in a known Huntington disease pedigree, and childhood-onset JoHD without available family history, in whom status epilepticus prompted renewed diagnostic evaluation. Ninety-three reports were included; of these, 81 contributed 228 unique patients and 12 provided complementary data. Early manifestations were heterogeneous and broadly consistent with previously described childhood-onset JoHD phenotypes. Diagnostic delay was extractable in 180\/228 patients; among 172 with point estimates, the median was 4.0 years. Definite epilepsy was reported in 60\/145 patients with ascertainable seizure status and was descriptively more frequent in childhood-onset (&lt;10 years) than adolescent-onset (10\u201320 years) JoHD (49\/84 [58.3%] vs. 11\/57 [19.3%]). Conclusions: JoHD should be considered in children and adolescents with progressive multisystem neurological involvement, particularly when epilepsy occurs with developmental regression, gait or speech deterioration, pyramidal or extrapyramidal signs, basal-ganglia abnormalities, or a compatible family history.<\/jats:p>","DOI":"10.3390\/brainsci16080893","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T09:31:59Z","timestamp":1787304719000},"page":"893","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early Manifestations, Diagnostic Pathways, and Epilepsy in Juvenile-Onset Huntington Disease: A Three-Patient Case Series and Systematic Review"],"prefix":"10.3390","volume":"16","author":[{"given":"Mirjana","family":"Perkovic Benedik","sequence":"first","affiliation":[{"name":"Department of Child, Adolescent and Developmental Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Loboda","sequence":"additional","affiliation":[{"name":"Department of Child, Adolescent and Developmental Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Benedik Kafol","sequence":"additional","affiliation":[{"name":"Faculty of Arts, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4159-1783","authenticated-orcid":false,"given":"Jan","family":"Kafol","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Department of Vascular Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2190-6771","authenticated-orcid":false,"given":"Neli","family":"Bizjak","sequence":"additional","affiliation":[{"name":"Department of Child, Adolescent and Developmental Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2019s disease chromosomes. The Huntington\u2019s Disease Collaborative Research Group","volume":"72","author":"MacDonald","year":"1993","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1002\/mds.29228","article-title":"Prevalence and Incidence of Huntington\u2019s Disease: An Updated Systematic Review and Meta-Analysis","volume":"37","author":"Medina","year":"2022","journal-title":"Mov. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"149","DOI":"10.3233\/JHD-231523","article-title":"Clinical Review of Juvenile Huntington\u2019s Disease","volume":"13","author":"Oosterloo","year":"2024","journal-title":"J. Huntingt. Dis."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Quarrell, O., O\u2019Donovan, K.L., Bandmann, O., and Strong, M. (2012). The Prevalence of Juvenile Huntington\u2019s Disease: A Review of the Literature and Meta-Analysis. PLoS Curr., 4.","DOI":"10.1371\/4f8606b742ef3"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"357","DOI":"10.3233\/JHD-240034","article-title":"Prevalence of Juvenile-Onset and Pediatric Huntington\u2019s Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study","volume":"13","author":"Bakels","year":"2024","journal-title":"J. Huntingt. Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(18)30294-1","article-title":"Biological and clinical manifestations of juvenile Huntington\u2019s disease: A retrospective analysis","volume":"17","author":"Fusilli","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1001\/archneur.64.6.813","article-title":"Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients","volume":"64","author":"Ribai","year":"2007","journal-title":"Arch. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/s41582-020-0389-4","article-title":"Huntington disease: New insights into molecular pathogenesis and therapeutic opportunities","volume":"16","author":"Tabrizi","year":"2020","journal-title":"Nat. Rev. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S1474-4422(10)70245-3","article-title":"Huntington\u2019s disease: From molecular pathogenesis to clinical treatment","volume":"10","author":"Ross","year":"2011","journal-title":"Lancet Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/mds.28823","article-title":"Juvenile-Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review","volume":"37","author":"Bakels","year":"2022","journal-title":"Mov. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"9455","DOI":"10.1523\/JNEUROSCI.4699-13.2014","article-title":"Huntingtin is required for normal excitatory synapse development in cortical and striatal circuits","volume":"34","author":"McKinstry","year":"2014","journal-title":"J. Neurosci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.3233\/JHD-180339","article-title":"Clinical Presentation and Features of Juvenile-Onset Huntington\u2019s Disease: A Systematic Review","volume":"8","author":"Cronin","year":"2019","journal-title":"J. Huntingt. Dis."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1002\/mds.25237","article-title":"Seizures in juvenile Huntington\u2019s disease: Frequency and characterization in a multicenter cohort","volume":"27","author":"Cloud","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e2051","DOI":"10.1212\/WNL.0000000000207867","article-title":"Pearls & Oy-sters: Epilepsy Is a Key Feature of Pediatric-Onset Huntington Disease","volume":"101","author":"Lammert","year":"2023","journal-title":"Neurology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.pediatrneurol.2026.03.009","article-title":"Caregiver-Reported Epilepsy Management in Juvenile-Onset Huntington Disease","volume":"179","author":"Lammert","year":"2026","journal-title":"Pediatr. Neurol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1016\/j.parkreldis.2012.03.011","article-title":"Cortical myoclonus in childhood and juvenile onset Huntington\u2019s disease","volume":"18","author":"Soliveri","year":"2012","journal-title":"Park. Relat. Disord."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S1474-4422(22)00121-1","article-title":"Potential disease-modifying therapies for Huntington\u2019s disease: Lessons learned and future opportunities","volume":"21","author":"Tabrizi","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1212\/WNL.49.4.1048","article-title":"Genetic testing of children at risk for Huntington\u2019s disease. US Huntington Disease Genetic Testing Group","volume":"49","author":"Nance","year":"1997","journal-title":"Neurology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1136\/jmg.34.8.701","article-title":"Juvenile onset Huntington\u2019s disease in an Omani child with asymptomatic, at risk parents","volume":"34","author":"Scrimgeour","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1002\/mds.870130610","article-title":"Neurophysiological abnormalities in the Westphal variant of Huntington\u2019s disease","volume":"13","author":"Topper","year":"1998","journal-title":"Mov. Disord."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1590\/S0004-282X1999000500022","article-title":"Juvenile Huntington\u2019s disease confirmed by genetic examination in twins","volume":"57","author":"Levy","year":"1999","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1212\/WNL.52.2.392","article-title":"Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington\u2019s disease","volume":"52","author":"Nance","year":"1999","journal-title":"Neurology"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1002\/1531-8257(200011)15:6<1248::AID-MDS1029>3.0.CO;2-Q","article-title":"Internal globus pallidotomy in dystonia secondary to Huntington\u2019s disease","volume":"15","author":"Cubo","year":"2000","journal-title":"Mov. Disord."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1055\/s-2000-7461","article-title":"Huntington disease in children: Genotype-phenotype correlation","volume":"31","author":"Rasmussen","year":"2000","journal-title":"Neuropediatrics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1212\/WNL.57.4.708","article-title":"Juvenile Huntington\u2019s disease presenting as progressive myoclonic epilepsy","volume":"57","author":"Gambardella","year":"2001","journal-title":"Neurology"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1055\/s-2002-32367","article-title":"Chorea Huntington: A rare case with childhood onset","volume":"33","author":"Gencik","year":"2002","journal-title":"Neuropediatrics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1684\/j.1950-6945.2003.tb00004.x","article-title":"EEG characteristics in juvenile Huntington\u2019s disease: A case report and review of the literature","volume":"5","author":"Landau","year":"2003","journal-title":"Epileptic Disord."},{"key":"ref_30","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\u2019s disease","volume":"64","author":"Milunsky","year":"2003","journal-title":"Clin. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1046\/j.1468-1331.2003.00601.x","article-title":"Highly disabling cerebellar presentation in Huntington disease","volume":"10","author":"Squitieri","year":"2003","journal-title":"Eur. J. Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1177\/08830738030180061301","article-title":"Unusual early-onset Huntingtons disease","volume":"18","author":"Vargas","year":"2003","journal-title":"J. Child. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/ajmg.b.20110","article-title":"The gender effect in juvenile Huntington disease patients of Italian origin","volume":"125","author":"Cannella","year":"2004","journal-title":"Am. J. Med. Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1097\/01.chi.0000134494.65678.65","article-title":"Huntington disease: A case study of early onset presenting as depression","volume":"43","author":"Duesterhus","year":"2004","journal-title":"J. Am. Acad. Child. Adolesc. Psychiatry"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1007\/s00247-004-1159-y","article-title":"MR imaging and spectroscopy in juvenile Huntington disease","volume":"34","author":"Schapiro","year":"2004","journal-title":"Pediatr. Radiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/s00431-004-1537-3","article-title":"Early onset Huntington disease: A neuronal degeneration syndrome","volume":"163","author":"Seneca","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"278","DOI":"10.12968\/ijpn.2005.11.6.18295","article-title":"Palliative care management of a child with juvenile onset Huntington\u2019s disease","volume":"11","author":"King","year":"2005","journal-title":"Int. J. Palliat. Nurs."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ajmg.a.30891","article-title":"Juvenile onset Huntington disease resulting from a very large maternal expansion","volume":"137","author":"Nahhas","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1002\/mds.20557","article-title":"Case of maternally transmitted juvenile Huntington\u2019s disease with a very large trinucleotide repeat","volume":"20","author":"Papapetropoulos","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/j.1440-1754.2006.00921.x","article-title":"Juvenile Huntington disease","volume":"42","author":"Geevasinga","year":"2006","journal-title":"J. Paediatr. Child. Health"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"223","DOI":"10.2310\/7010.2006.00055","article-title":"Clinical characteristics of childhood-onset (juvenile) Huntington disease: Report of 12 patients and review of the literature","volume":"21","author":"Afifi","year":"2006","journal-title":"J. Child. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1590\/S0004-282X2006000100002","article-title":"Clinical presentation of juvenile Huntington disease","volume":"64","author":"Ruocco","year":"2006","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1177\/7010.2006.00244","article-title":"Huntington disease in a 9-year-old boy: Clinical course and neuropathologic examination","volume":"21","author":"Adamek","year":"2006","journal-title":"J. Child. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1212\/01.wnl.0000238390.86304.4e","article-title":"Speech and language delay are early manifestations of juvenile-onset Huntington disease","volume":"67","author":"Yoon","year":"2006","journal-title":"Neurology"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/chi.0b013e31802ed8c9","article-title":"Huntington\u2019s disease presenting as a depressive disorder with psychotic features","volume":"46","author":"Jardri","year":"2007","journal-title":"J. Am. Acad. Child. Adolesc. Psychiatry"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/s12264-007-0029-7","article-title":"Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family","volume":"23","author":"Liu","year":"2007","journal-title":"Neurosci. Bull."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1002\/mds.22245","article-title":"MR-spectroscopic findings in juvenile-onset Huntington\u2019s disease","volume":"23","author":"Reynolds","year":"2008","journal-title":"Mov. Disord."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1177\/0883073808314152","article-title":"Juvenile Huntington disease exacerbated by methylphenidate: Case report","volume":"23","author":"Waugh","year":"2008","journal-title":"J. Child. Neurol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s10072-008-0981-7","article-title":"Excessive blinking as an initial manifestation of juvenile Huntington\u2019s disease","volume":"29","author":"Xing","year":"2008","journal-title":"Neurol. Sci."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/ajmg.a.32707","article-title":"A patient with early onset Huntington disease and severe cerebellar atrophy","volume":"149","author":"Sakazume","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_51","first-page":"285","article-title":"Juvenile Huntington\u2019s disease: A case report and literature review","volume":"38","year":"2010","journal-title":"Actas Esp. Psiquiatr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"45","DOI":"10.14802\/jmd.10012","article-title":"A case of juvenile huntington disease in a 6-year-old boy","volume":"3","author":"Sunwoo","year":"2010","journal-title":"J. Mov. Disord."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1176\/appi.ajp.2011.11020312","article-title":"Eating disorder as a psychiatric onset of juvenile Huntington\u2019s disease","volume":"168","author":"Marconi","year":"2011","journal-title":"Am. J. Psychiatry"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.a.33911","article-title":"Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume","volume":"155","author":"Nicolas","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"436.e9","DOI":"10.1016\/j.genhosppsych.2012.02.008","article-title":"Juvenile Huntington\u2019s disease presenting as difficult-to-treat seizure and the first episode of psychosis","volume":"34","author":"Chuo","year":"2012","journal-title":"Gen. Hosp. Psychiatry"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"(2013). Abstracts for the AACN Scientific Poster Session. Clin. Neuropsychol., 27, 539\u2013646.","DOI":"10.1080\/13854046.2013.800269"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1212\/WNL.0b013e31828727fa","article-title":"The challenge of juvenile Huntington disease: To test or not to test","volume":"80","author":"Koutsis","year":"2013","journal-title":"Neurology"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.pediatrneurol.2012.12.023","article-title":"Typical clinical findings should prompt investigation for juvenile Huntington disease","volume":"48","author":"Monrad","year":"2013","journal-title":"Pediatr. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1002\/mds.25622","article-title":"Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: A diagnostic challenge","volume":"28","author":"Post","year":"2013","journal-title":"Mov. Disord."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1111\/ner.12098","article-title":"Bilateral globus pallidus stimulation in Westphal variant of huntington disease","volume":"17","author":"Cislaghi","year":"2014","journal-title":"Neuromodulation"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"A77","DOI":"10.1136\/jnnp-2014-309032.219","article-title":"J36\u2005Juvenile Huntington Disease In Voronezh Families","volume":"85","author":"Kurbatov","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/cge.12120","article-title":"Clinical features of Chinese patients with Huntington\u2019s disease carrying CAG repeats beyond 60 within HTT gene","volume":"85","author":"Liu","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"276","DOI":"10.4103\/1817-1745.165709","article-title":"Childhood-onset (Juvenile) Huntington\u2019s disease: A rare case report","volume":"10","author":"Patra","year":"2015","journal-title":"J. Pediatr. Neurosci."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3233\/JHD-150152","article-title":"Abnormal Weight and Body Mass Index in Children with Juvenile Huntington\u2019s Disease","volume":"4","author":"Tereshchenko","year":"2015","journal-title":"J. Huntingt. Dis."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1590\/0004-282X20150192","article-title":"Juvenile Huntington disease in Argentina","volume":"74","author":"Gatto","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"A62","DOI":"10.1136\/jnnp-2016-314597.175","article-title":"I10\u2005Cross-sectional and longitudinal analysis in juvenile huntington disease in italy","volume":"87","author":"Marano","year":"2016","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_67","first-page":"e060217","article-title":"A case report of juvenile Huntington disease","volume":"6","author":"Choudhary","year":"2017","journal-title":"J. Pediatr. Neonatal Individ. Med. (JPNIM)"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.pediatrneurol.2015.07.009","article-title":"Juvenile Huntington Disease: Pediatric Neurologist\u2014Look at the Neuroimage","volume":"76","author":"Raskin","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Cui, S.S., Ren, R.J., Wang, Y., Wang, G., and Chen, S.D. (2017). Tics as an initial manifestation of juvenile Huntington\u2019s disease: Case report and literature review. BMC Neurol., 17.","DOI":"10.1186\/s12883-017-0923-1"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3233\/JHD-170261","article-title":"Neuropathological Comparison of Adult Onset and Juvenile Huntington\u2019s Disease with Cerebellar Atrophy: A Report of a Father and Son","volume":"6","author":"Latimer","year":"2017","journal-title":"J. Huntingt. Dis."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1007\/s00415-018-8880-1","article-title":"Pallidal deep brain stimulation in juvenile Huntington\u2019s disease: Local field potential oscillations and clinical data","volume":"265","author":"Ferrea","year":"2018","journal-title":"J. Neurol."},{"key":"ref_72","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","year":"2018","journal-title":"Pediatr. Radiol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"028","DOI":"10.1055\/s-0037-1608688","article-title":"Westphal Variant of Huntington\u2019s Disease","volume":"17","year":"2019","journal-title":"J. Pediatr. Neurol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"e1939","DOI":"10.1212\/WNL.0000000000007355","article-title":"Brain structure in juvenile-onset Huntington disease","volume":"92","author":"Tereshchenko","year":"2019","journal-title":"Neurology"},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"Achenbach, J., Thiels, C., Lucke, T., and Saft, C. (2020). Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series. Brain Sci., 10.","DOI":"10.3390\/brainsci10060340"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"18","DOI":"10.5339\/qmj.2020.18","article-title":"Drug-Resistant Epilepsy in Children with Juvenile Huntington\u2019s Disease: A Challenging Case and Brief Review","volume":"2020","author":"Khair","year":"2020","journal-title":"Qatar Med. J."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/s13256-020-02494-7","article-title":"Juvenile Huntington\u2019s disease: Two case reports and a review of the literature","volume":"14","author":"Lesinskiene","year":"2020","journal-title":"J. Med. Case Rep."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Oosterloo, M., Bijlsma, E.K., Die-Smulders, C., and Roos, R.A.C. (2020). Diagnosing Juvenile Huntington\u2019s Disease: An Explorative Study among Caregivers of Affected Children. Brain Sci., 10.","DOI":"10.3390\/brainsci10030155"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.radcr.2020.10.041","article-title":"MRI findings in juvenile Huntington\u2019s disease","volume":"16","author":"Arraj","year":"2021","journal-title":"Radiol. Case Rep."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1002\/mds.28426","article-title":"Locomotor Recovery of Juvenile Huntington\u2019s Disease Treated by Pallidothalamic Tractotomy","volume":"36","author":"Horisawa","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"2329048X211036137","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","year":"2021","journal-title":"Child. Neurol. Open"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"100470","DOI":"10.1016\/j.ebr.2021.100470","article-title":"Juvenile Huntington\u2019s disease masquerading as progressive myoclonus epilepsy","volume":"16","author":"Thakor","year":"2021","journal-title":"Epilepsy Behav. Rep."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"479","DOI":"10.21037\/qims-19-992","article-title":"Juvenile-onset hypokinetic-rigid Huntington\u2019s disease: A case with dual-tracer positron emission tomography","volume":"11","author":"Zhou","year":"2021","journal-title":"Quant. Imaging Med. Surg."},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Cellini, R., Paladina, G., Mascaro, G., Lembo, M.A., Lombardo Facciale, A., Ferrera, M.C., Fonti, B., Pergolizzi, L., Buonasera, P., and Bramanti, P. (2022). Effect of Immersive Virtual Reality by a Computer Assisted Rehabilitation Environment (CAREN) in Juvenile Huntington\u2019s Disease: A Case Report. Medicina, 58.","DOI":"10.3390\/medicina58070919"},{"key":"ref_85","doi-asserted-by":"crossref","unstructured":"Graziola, F., Maffi, S., Grasso, M., Garone, G., Migliore, S., Scaricamazza, E., Ceccarelli, C., Casella, M., Busi, L., and D\u2019Alessio, B. (2022). \u201cSpazio Huntington\u201d: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. J. Pers. Med., 12.","DOI":"10.3390\/jpm12010120"},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Santos-Lobato, B.L., Rocha, J.S.S., and Rocha, L.C. (2022). Case report: Cerebellar sparing in juvenile Huntington\u2019s disease. Front. Neurol., 13.","DOI":"10.3389\/fneur.2022.1089193"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"e12858","DOI":"10.1111\/nan.12858","article-title":"Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease: A case report","volume":"49","author":"Bakels","year":"2023","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Caligiuri, M.E., Vizza, P., Squitieri, F., Cascini, G.L., Sabatini, U., and Veltri, P. (2023, January 28\u201329). Hybrid PET\/MRI Analysis in the Juvenile Huntington Disease Evaluation. Proceedings of the 2023 International Workshop on Biomedical Applications, Technologies and Sensors (BATS), Catanzaro, Italy.","DOI":"10.1109\/BATS59463.2023.10303018"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e304","DOI":"10.1097\/WNO.0000000000001437","article-title":"Delayed Diagnosis of Childhood-Onset Huntington Disease in an 8-Year-Old Boy With Ocular Motor Apraxia","volume":"43","author":"Im","year":"2023","journal-title":"J. Neuroophthalmol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"S12","DOI":"10.1002\/mdc3.13775","article-title":"Oculomotor Apraxia as an Early Presenting Sign of Juvenile-Onset Huntington\u2019s Disease","volume":"10","author":"Innes","year":"2023","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_91","first-page":"87","article-title":"Treatment Dilemma in Juvenile Huntington\u2019s Patient Presenting with Psychiatric Symptoms","volume":"60","author":"Oksuz","year":"2023","journal-title":"Noro Psikiyatr. Ars."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/ene.15644","article-title":"Unraveling the role of relative telomere length and CAG expansion on initial symptoms of juvenile Huntington disease","volume":"30","year":"2023","journal-title":"Eur. J. Neurol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/mdc3.13625","article-title":"Juvenile-Onset Huntington\u2019s Disease in Peru: A Case Series of 32 Patients","volume":"10","author":"Vishnevetsky","year":"2023","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_94","first-page":"e40637","article-title":"Juvenile Huntington\u2019s Disease: A Case Report and a Review of Diagnostic Challenges","volume":"15","author":"Yu","year":"2023","journal-title":"Cureus"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1002\/mdc3.14223","article-title":"Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: The RAREST-JHD Study","volume":"11","author":"Caligiuri","year":"2024","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1017\/cjn.2023.69","article-title":"Distinguishing Tics Secondary To Juvenile Huntington\u2019s Disease From A Primary Tic Disorder","volume":"51","author":"Chan","year":"2024","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_97","first-page":"135","article-title":"Childhood-onset Huntignton s disease. A rare presentation","volume":"78","author":"Gauto","year":"2024","journal-title":"Rev. Neurol."},{"key":"ref_98","first-page":"262","article-title":"An Early Presentation of a Chinese Boy with (Childhood-Onset) Juvenile Huntington Disease","volume":"29","author":"Tsung","year":"2024","journal-title":"Hong Kong J. Paediatr. (New Ser.)"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"CASE24512","DOI":"10.3171\/CASE24512","article-title":"Intrathecal baclofen pump for severe hypertonia in a patient with juvenile Huntington\u2019s disease: Illustrative case","volume":"8","author":"Winston","year":"2024","journal-title":"J. Neurosurg. Case Lessons"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1002\/acn3.52193","article-title":"Juvenile-onset Huntington\u2019s disease\u2014Spectrum and evolution of presenting movement disorders","volume":"11","author":"Yang","year":"2024","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"e213525","DOI":"10.1212\/WNL.0000000000213525","article-title":"Comparison of the Clinical Spectrum of Juvenile- and Adult-Onset Huntington Disease: A National Cohort and Enroll-HD Observational Study","volume":"104","author":"Bakels","year":"2025","journal-title":"Neurology"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1177\/00099228251356559","article-title":"Juvenile Huntington\u2019s Disease: Diagnostic challenges in the Clinic","volume":"64","year":"2025","journal-title":"Clin. Pediatr."},{"key":"ref_103","doi-asserted-by":"crossref","unstructured":"Graziola, F., Danti, F.R., Penzo, M., Spagarino, A., Minacapilli, E., Moscatelli, M., Zibordi, F., Mariotti, C., and Zorzi, G. (2025). Preliminary observations of glucose metabolism dysregulation in pediatric Huntington\u2019s disease. Front. Neurol., 16.","DOI":"10.3389\/fneur.2025.1626275"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"e63894","DOI":"10.1002\/ajmg.a.63894","article-title":"Expanding the Phenotype of Extremely Early Onset Juvenile Huntington\u2019s Disease: A Case Report and Review of Previously Published Cases","volume":"197","author":"Powis","year":"2025","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"e01926","DOI":"10.1213\/XAA.0000000000001926","article-title":"Neuraxial Analgesia and Anesthesia for Labor and Cesarean Delivery in a Patient with Juvenile Huntington Disease: A Case Report","volume":"19","author":"Soloniuk","year":"2025","journal-title":"A&A Pract."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1177\/08830738251396171","article-title":"Navigating the Uncommon: \u201cJuvenile-Onset Huntington Disease\u201d","volume":"41","author":"Aatli","year":"2026","journal-title":"J. Child. Neurol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/mds.70091","article-title":"Perampanel as an Effective Treatment for Cortical Reflex Myoclonus in Juvenile Huntington\u2019s Disease","volume":"41","author":"Yamada","year":"2026","journal-title":"Mov. Disord."},{"key":"ref_108","first-page":"2127","article-title":"Methodological quality of case series studies: An introduction to the JBI critical appraisal tool","volume":"18","author":"Munn","year":"2020","journal-title":"JBI Evid. Synth."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/epi.12550","article-title":"ILAE official report: A practical clinical definition of epilepsy","volume":"55","author":"Fisher","year":"2014","journal-title":"Epilepsia"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1111\/epi.13121","article-title":"A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus","volume":"56","author":"Trinka","year":"2015","journal-title":"Epilepsia"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1101\/gr.225672.117","article-title":"Detection of long repeat expansions from PCR-free whole-genome sequence data","volume":"27","author":"Dolzhenko","year":"2017","journal-title":"Genome Res."}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/16\/8\/893\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T09:50:53Z","timestamp":1787305853000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/16\/8\/893"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,21]]},"references-count":111,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["brainsci16080893"],"URL":"https:\/\/doi.org\/10.3390\/brainsci16080893","relation":{},"ISSN":["2076-3425"],"issn-type":[{"value":"2076-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,21]]}}}