The hereditary ataxias: Where are we now? Four decades of local research

D C Smith, L J Greenberg, A Bryer. South African Medical Journal 2016;106(6):S38. DOI:10.7196/SAMJ.2016.v106i6.10989

The hereditary ataxias have been studied at the University of Cape Town for more than 40 years, following from initial clinical investigations by Beighton and colleagues in the early 1970s.
Thirty-seven of these individuals (from 30 families) had molecularly confirmed FRDA. To the best of our knowledge, no individuals of indigenous black African ethnic origin have been given a confirmed molecular diagnosis of FRDA. The vast majority of confirmed FRDA patients in SA are of European ancestry, along with a single family of Indian origin.

 The hereditary ataxias: Where are we now? Four decades of local research