{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T21:23:02Z","timestamp":1783200182687,"version":"3.54.6"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T00:00:00Z","timestamp":1715212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Huntington disease\u2010like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe the phenotypic variability of HDL2 in a group of mixed ancestry individuals from South Africa.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight patients were assessed with analysis of repeat size and magnetic resonance brain imaging. We applied the Unified Huntington's Disease Rating Scale (UHDRS), but in deceased patients (4), this was estimated from video material.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cognitive domains were more severely affected than motor; UHDRS motor scores were notable for bradykinesia, and to a slightly lesser extent, for rigidity and dystonia; a single patient had marked chorea. Repeat lengths ranged from 45 to 63 (median, 52).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This South African group of mixed ancestry HDL2 individuals presented with severe cognitive and behavioral impairments, with lesser degrees or absence of chorea. This presentation is possibly related to large repeat sizes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14052","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T01:03:47Z","timestamp":1715303027000},"page":"850-854","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Atypical Presentations of Huntington Disease\u2010like 2 in South African Individuals"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4102-8483","authenticated-orcid":false,"given":"Heena","family":"Narotam\u2010Jeena","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Guttman","sequence":"additional","affiliation":[{"name":"Centre for Movement Disorders, Markham Ontario, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludo","family":"van Hillegondsberg","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riaan","family":"van Coller","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pretoria  Pretoria South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Krause","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of Witwatersrand  Johannesburg South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7677-426X","authenticated-orcid":false,"given":"Jonathan","family":"Carr","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Huntington Disease\u2010like 2","author":"Anderson 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