title: The hereditary adult-onset ataxias in South Africa.
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.
authors: Division of Neurology, Department of Medicine, Groote Schuur Hospital and University of Cape Town (UCT), Cape Town, South Africa. abryer@uctgshl.uct.ac.za
authors: Alan
authors: A
authors: Bryer
authors: Amanda
authors: A
authors: Krause
authors: Pierre
authors: P
authors: Bill
authors: Virginia
authors: V
authors: Davids
authors: Daphne
authors: D
authors: Bryant
authors: James
authors: J
authors: Butler
authors: Jeannine
authors: J
authors: Heckmann
authors: Rajkumar
authors: R
authors: Ramesar
authors: Jacquie
authors: J
authors: Greenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000067696:Ataxin-1; D000067719:Ataxin-7; D000067528:Ataxins; D044383:Black People / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics; D009687:Nuclear Proteins / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D011446:Prospective Studies; D013019:South Africa / Q000453:epidemiology; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C000593749:ATXN1 protein, human; C000593829:ATXN7 protein, human; D000067696:Ataxin-1; D000067719:Ataxin-7; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins