Atypical Presentations of Huntington Disease‐like 2 in South African Individuals-Reference-Cited by-同舟云学术

Atypical Presentations of Huntington Disease‐like 2 in South African Individuals

Published:2024-05-09 Issue:7 Volume:11 Page:850-854
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Narotam‐Jeena Heena¹^ORCID,Guttman Mark²,van Hillegondsberg Ludo¹,van Coller Riaan³,Krause Amanda⁴,Carr Jonathan¹^ORCID

Affiliation:

1. Division of Neurology, Department of Medicine University of Stellenbosch Cape Town South Africa

2. Centre for Movement Disorders, Markham Ontario, Division of Neurology University of Toronto Toronto Ontario Canada

3. Department of Neurology University of Pretoria Pretoria South Africa

4. Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of Witwatersrand Johannesburg South Africa

Abstract

AbstractBackgroundHuntington disease‐like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more.ObjectiveTo describe the phenotypic variability of HDL2 in a group of mixed ancestry individuals from South Africa.MethodsEight 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.ResultsCognitive 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).ConclusionThis 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.

Publisher

Wiley

Reference16 articles.

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