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Inherited polyglutamine spinocerebellar ataxias in South Africa
Abstract
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.
Conclusion. 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.
