The hereditary adult-onset ataxias in South Africa

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dc.contributor.authorBryer A.
dc.contributor.authorKrause A.
dc.contributor.authorBill P.
dc.contributor.authorDavids V.
dc.contributor.authorBryant D.
dc.contributor.authorButler J.
dc.contributor.authorHeckmann J.
dc.contributor.authorRamesar R.
dc.contributor.authorGreenberg J.
dc.date.accessioned2011-05-15T16:17:10Z
dc.date.available2011-05-15T16:17:10Z
dc.date.issued2003
dc.description.abstractThere 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.
dc.description.versionArticle
dc.identifier.citationJournal of the Neurological Sciences
dc.identifier.citation216
dc.identifier.citation1
dc.identifier.issn0022510X
dc.identifier.other10.1016/S0022-510X(03)00209-0
dc.identifier.urihttp://hdl.handle.net/10019.1/14101
dc.subjectadult
dc.subjectarticle
dc.subjectcontrolled study
dc.subjectethnology
dc.subjectevaluation
dc.subjectgene frequency
dc.subjectgenetic association
dc.subjectgenetic epidemiology
dc.subjectgenome analysis
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmutation rate
dc.subjectnegro
dc.subjectpopulation research
dc.subjectpriority journal
dc.subjectprospective study
dc.subjectSouth Africa
dc.subjectspinocerebellar degeneration
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAfrican Continental Ancestry Group
dc.subjectAge of Onset
dc.subjectChild
dc.subjectChromosome Aberrations
dc.subjectDNA Mutational Analysis
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectGene Frequency
dc.subjectGenetic Screening
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectNerve Tissue Proteins
dc.subjectNuclear Proteins
dc.subjectPhenotype
dc.subjectProspective Studies
dc.subjectSouth Africa
dc.subjectSpinocerebellar Ataxias
dc.subjectTrinucleotide Repeat Expansion
dc.titleThe hereditary adult-onset ataxias in South Africa
dc.typeArticle
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