A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five …

FK Baine, N Peerbhai, A Krause - Journal of the neurological sciences, 2018 - Elsevier
Huntington disease (HD) is a progressive neurodegenerative disease, characterised by a
triad of movement disorder, emotional and behavioural disturbances and cognitive …

The hereditary ataxias: Where are we now? Four decades of local research: How human genetics came to SA

DC Smith, LJ Greenberg, A Bryer - South African Medical Journal, 2016 - journals.co.za
The hereditary ataxias have been studied at the University of Cape Town for more than 40
years, following from initial clinical investigations by Beighton and colleagues in the early …

Machado Joseph's Disease in a Togolese Family: A Case Report

VK Kumako, KP Waklatsi, K Apetse… - American Journal of …, 2021 - intjeee.org
Spinocerebellar ataxias (SCAs) are rare neurodegenerative disorders of adults
characterized by autosomal dominant inheritance. Machado-Joseph disease (MJD) or ASC …