Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

J Genet. 2018 Mar;97(1):219-224.

Abstract

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n = 100 (11.6%)) and SCA2 (n = 98 (11.3%)) followed by SCA3 (n = 40 (4.6%)), FRDA (n = 20 (2.3%)) and SCA12 (n = 8 (0.9%)).

MeSH terms

  • Case-Control Studies
  • Europe
  • Frataxin
  • Gene Frequency
  • Genetic Loci
  • Genetic Testing*
  • Geography
  • Humans
  • India
  • Iron-Binding Proteins / genetics
  • Microsatellite Repeats / genetics
  • Mutation / genetics
  • Referral and Consultation*
  • Spinocerebellar Ataxias / genetics*
  • Tertiary Care Centers*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Iron-Binding Proteins