{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:40:05Z","timestamp":1756276805076,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,2]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia\/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington\u2019s disease (HD) was made. Further history revealed a family history of cognitive issues and dystonia in his uncle at the age of mid-40s. The diagnosis of HD was confirmed via genetic testing of the blood, specifically looking for trinucleotide repeats. HD allele 1 had full penetrance with 44 cytosine-adenine-guanine (CAG) repeats and HD allele 2 had partial penetrance with 15 CAG repeats. A multidisciplinary team was critical in diagnosing and managing this patient\u2019s underlying HD.<\/jats:p>","DOI":"10.1136\/bcr-2024-264004","type":"journal-article","created":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T20:50:52Z","timestamp":1737319852000},"page":"e264004","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnosing Huntington\u2019s disease on the medical ward"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7775-2444","authenticated-orcid":false,"given":"Jessica","family":"Tuan","sequence":"first","affiliation":[{"name":"Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,1,19]]},"reference":[{"key":"2025082623072916000_18.1.e264004.1","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":"2025082623072916000_18.1.e264004.2","doi-asserted-by":"crossref","DOI":"10.1212\/CPJ.0000000000200200","article-title":"Disparities in Huntington Disease Severity: Analysis Using the ENROLL-HD Dataset","volume":"13","author":"Mendizabal","year":"2023","journal-title":"Neurol Clin Pract"},{"key":"2025082623072916000_18.1.e264004.3","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/mds.27653","article-title":"Huntington\u2019s disease in the United States: Variation by demographic and socioeconomic factors","volume":"34","author":"Bruzelius","year":"2019","journal-title":"Mov Disord"},{"key":"2025082623072916000_18.1.e264004.4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.14740\/jnr721","article-title":"Review of Huntington\u2019s Disease: From Basics to Advances in Diagnosis and Treatment","volume":"12","author":"Gonzalez Rojas","year":"2022","journal-title":"J Neurol Res"},{"key":"2025082623072916000_18.1.e264004.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.6.635"},{"key":"2025082623072916000_18.1.e264004.6","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70245-3"},{"key":"2025082623072916000_18.1.e264004.7","doi-asserted-by":"crossref","DOI":"10.3390\/ijms23105411","article-title":"A Glimpse of Molecular Biomarkers in Huntington\u2019s Disease","volume":"23","author":"Mart\u00ed-Mart\u00ednez","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2025082623072916000_18.1.e264004.8","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s11910-017-0739-9","article-title":"Huntington\u2019s Disease-Update on Treatments","volume":"17","author":"Wyant","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2025082623072916000_18.1.e264004.9","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.2147\/TCRM.S279332","article-title":"Clinical Utility of Deutetrabenazine as a Treatment Option for Chorea Associated with Huntington\u2019s Disease and Tardive Dyskinesia","volume":"19","author":"Frank","year":"2023","journal-title":"Ther Clin Risk Manag"},{"key":"2025082623072916000_18.1.e264004.10","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S1474-4422(23)00127-8","article-title":"Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington\u2019s disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trial","volume":"22","author":"Furr Stimming","year":"2023","journal-title":"Lancet Neurol"},{"key":"2025082623072916000_18.1.e264004.11","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1212\/WNL.0b013e318263c443","article-title":"Evidence-based guideline: pharmacologic treatment of chorea in Huntington disease: report of the guideline development subcommittee of the American Academy of Neurology","volume":"79","author":"Armstrong","year":"2012","journal-title":"Neurology (ECronicon)"},{"key":"2025082623072916000_18.1.e264004.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.4.293"},{"key":"2025082623072916000_18.1.e264004.13","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92087"},{"key":"2025082623072916000_18.1.e264004.14","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abk2485","article-title":"Targeted gene silencing in the nervous system with CRISPR-Cas13","volume":"8","author":"Powell","year":"2022","journal-title":"Sci Adv"},{"key":"2025082623072916000_18.1.e264004.15","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2019.00710","article-title":"International Guidelines for the Treatment of Huntington\u2019s Disease","volume":"10","author":"Bachoud-L\u00e9vi","year":"2019","journal-title":"Front Neurol"},{"key":"2025082623072916000_18.1.e264004.16","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s42466-023-00285-1","article-title":"Symptomatic treatment options for Huntington\u2019s disease (guidelines of the German Neurological Society)","volume":"5","author":"Saft","year":"2023","journal-title":"Neurol Res Pract"},{"key":"2025082623072916000_18.1.e264004.17","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/mds.25500","article-title":"Pharmacological treatment of chorea in Huntington\u2019s disease-good clinical practice versus evidence-based guideline","volume":"28","author":"Reilmann","year":"2013","journal-title":"Mov Disord"},{"key":"2025082623072916000_18.1.e264004.18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.1991.tb05511.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-264004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:07:38Z","timestamp":1756274858000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-264004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,19]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/bcr-2024-264004"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-264004","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}