Title: A Rare Case of Spinocerebellar Ataxia

Authors: Dr Aditya B. Mapari, Dr Salil A. Ganu, Dr Mrs Neelima Saoji

 DOI:  http://dx.doi.org/10.18535/jmscr/v4i3.22

Abstract

 Spinocerebellar ataxias although rare, are among the most common causes of heritable ataxias. They are inherited in autosomal dominant fashion. We encountered one such case and wish to discuss the same.

References

1.      The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Geschwind DH, et al. Am J Hum Genet. 1997;60(4):842

2.      Trinucleotide repeat disorders. Orr HT, et al. Annu Rev Neurosci. 2007;30:575

3.      Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type1. Orr HT, et al. Nat Genet. 1993;4(3):221

Corresponding Author

Dr Salil A. Ganu