Atypical Presentations of Huntington Disease-like 2 in South African Individuals.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2024-07-01 Epub Date: 2024-05-09 DOI:10.1002/mdc3.14052

Heena Narotam-Jeena, Mark Guttman, Ludo van Hillegondsberg, Riaan van Coller, Amanda Krause, Jonathan Carr

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Abstract

Background: 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.

Objective: To describe the phenotypic variability of HDL2 in a group of mixed ancestry individuals from South Africa.

Methods: 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.

Results: 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).

Conclusion: 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.

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南非人亨廷顿病样 2 的非典型表现

背景：亨廷顿病样 2（HDL2）是一种神经退行性疾病，仅影响非洲血统的个体。具有 40 个或更多重复序列的个体具有完全的渗透性：描述南非一组混血儿 HDL2 的表型变异性：对八名患者进行了重复大小分析和脑磁共振成像评估。我们采用了亨廷顿氏病统一评定量表（UHDRS），但已故患者（4 人）的评定量表是根据视频资料估算的：结果：认知领域受到的影响比运动领域严重；UHDRS运动评分以运动迟缓为主，其次是僵直和肌张力障碍；一名患者有明显的舞蹈症。重复长度从 45 到 63 不等（中位数为 52）：结论：这组南非混血 HDL2 患者有严重的认知和行为障碍，但舞蹈症程度较轻或没有舞蹈症。这种表现可能与重复序列大有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)