title: Inherited polyglutamine spinocerebellar ataxias in South Africa.
abstract: OBJECTIVE
  To determine the frequency and distribution of polyglutamine spinocerebellar ataxias (SCAs) from referrals over a 24-year period to the National Health Laboratory Service (NHLS) in South Africa (SA).
  
  
  METHODS
  Paper-based clinical reports in the University of Cape Town laboratory and the NHLS electronic patient record database spanning a 24-year period were mined for information regarding the molecular diagnosis, ethnicity and CAG repeat length for individuals referred for molecular genetic testing for the polyglutamine SCAs.
  
  
  RESULTS
  SCA1 and 7 are the most frequent types of polyglutamine SCA in the SA patient population, followed by SCA2, 3 and 6. SCA1 is the most common type in the coloured, white and Indian populations, whereas the majority of indigenous black African patients are affected with SCA7 and 2. Of individuals tested, 22% were found to be positive for one of the polyglutamine SCAs.
  
  
  CONCLUSIONS
  Although trends in the frequency and distribution of the polyglutamine SCAs in SA have not changed significantly since our previous study in 2003, they differ remarkably from those reported elsewhere, and reflect the unique genetic and demographic background of SA. The provision of accurate and complete patient information and family history is crucial to the diagnostic process, to enable comprehensive epidemiological studies and assist in developing therapeutic and patient management strategies.
authors: Division of Human Genetics, Department of Clinical Laboratory Sciences, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa. danielle.smith@uct.ac.za
authors: D C
authors: DC
authors: Smith
authors: A
authors: A
authors: Bryer
authors: L M
authors: LM
authors: Watson
authors: L J
authors: LJ
authors: Greenberg
mesh_terms: D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D025202:Molecular Diagnostic Techniques; D010455:Peptides / Q000235:genetics*; D013019:South Africa / Q000453:epidemiology; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D010455:Peptides; C097188:polyglutamine