The hereditary adult-onset ataxias in South Africa
Date
2003
Authors
Bryer A.
Krause A.
Bill P.
Davids V.
Bryant D.
Butler J.
Heckmann J.
Ramesar R.
Greenberg J.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
There is little data on the spectrum and frequencies of the autosomal dominant spinocerebellar ataxias (SCAs) from the African continent. We undertook a large prospective population-based study over a 10-year period in South Africa (SA). Affected persons were clinically evaluated, and the molecular analysis for the SCA1, 2, 3, 6 and 7 expansions was undertaken. Of the 54 SA families with dominant ataxia, SCA1 accounted for 40.7%, SCA2 for 13%, SCA3 for 3.7%, SCA6 for 1.9%, SCA7 for 22.2% and 18.5% were negative for all these mutations. The frequency of the SCA1 and SCA7 expansions in SA represents one of the highest frequencies for these expansions reported in any country. In this study, the SCA7 mutations have only been found in SA families of Black ethnic origin. © 2003 Published by Elsevier B.V.
Description
Keywords
adult, article, controlled study, ethnology, evaluation, gene frequency, genetic association, genetic epidemiology, genome analysis, human, major clinical study, mutation rate, negro, population research, priority journal, prospective study, South Africa, spinocerebellar degeneration, Adolescent, Adult, African Continental Ancestry Group, Age of Onset, Child, Chromosome Aberrations, DNA Mutational Analysis, European Continental Ancestry Group, Female, Gene Frequency, Genetic Screening, Humans, Male, Middle Aged, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Prospective Studies, South Africa, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion
Citation
Journal of the Neurological Sciences
216
1
216
1