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. 2024 Jul;11(7):850-854.
doi: 10.1002/mdc3.14052. Epub 2024 May 9.

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

Heena Narotam-Jeena  1 , Mark Guttman  2 , Ludo van Hillegondsberg  1 , Riaan van Coller  3 , Amanda Krause  4 , Jonathan Carr  1
Affiliations

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

Heena Narotam-Jeena et al. Mov Disord Clin Pract. 2024 Jul.

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.

Keywords: HDL2; Huntington; chorea.

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Figures

FIG. 1
FIG. 1
Family trees of affected families; *indicates patients reviewed for this study.
See this image and copyright information in PMC

References

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