Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town, South Africa.
Centre for Movement Disorders, Markham Ontario, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
Mov Disord Clin Pract. 2024 Jul;11(7):850-854. doi: 10.1002/mdc3.14052. Epub 2024 May 9.
Huntington disease-like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more.
To describe the phenotypic variability of HDL2 in a group of mixed ancestry individuals from South Africa.
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.
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).
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.
亨廷顿病样 2 型（HDL2）是一种神经退行性疾病，仅影响非洲血统个体。40 次重复或更多的个体完全外显。
描述南非一组混合血统个体中 HDL2 的表型变异性。
对 8 名患者进行重复大小分析和磁共振脑成像评估。我们应用统一亨廷顿病评定量表（UHDRS），但在 4 名已故患者中，这是根据视频材料估计的。
认知域比运动域受影响更严重；UHDRS 运动评分显著表现为运动迟缓，在一定程度上还表现为僵硬和肌张力障碍；一名患者有明显的舞蹈症。重复长度范围为 45 至 63（中位数，52）。
南非这群混合血统的 HDL2 个体表现出严重的认知和行为障碍，舞蹈症程度较轻或不存在。这种表现可能与较大的重复大小有关。
