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

9 May 2024

Abstract excerpt

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...

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PMID: 38725192
DOI: 10.1002/mdc3.14052

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