Review
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World J Neurol. Dec 28, 2013; 3(4): 115-128
Published online Dec 28, 2013. doi: 10.5316/wjn.v3.i4.115
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era
Christina Votsi, Kyproula Christodoulou
Christina Votsi, Kyproula Christodoulou, Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
Author contributions: Votsi C and Christodoulou K contributed equally to the design, drafting and revision of the manuscript and both approved the final version.
Correspondence to: Kyproula Christodoulou, PhD, Professor of the Cyprus School of Molecular Medicine, Head of the Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, 6 International Airport Av., PO Box 23462, Nicosia 1683, Cyprus. roula@cing.ac.cy
Telephone: +357-22-392649 Fax: +357-22-392615
Received: June 28, 2013
Revised: September 10, 2013
Accepted: October 16, 2013
Published online: December 28, 2013
Processing time: 202 Days and 2.9 Hours
Core Tip

Core tip: Molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to clinical overlap and increased genetic heterogeneity. Although use of traditional techniques led to the identification of causative mutations in the past, the recent employment of novel technologies in this field, has initiated a new era in the molecular diagnosis of ARCA. Limitations such as small sized families, large numbers of candidate genes within mapped intervals and large sized genes hindered the timely discovery of ARCA genes using conventional Sanger sequencing. ARCA gene discovery and molecular diagnosis should be achievable at a much faster rate through the use of whole-genome or whole-exome sequencing technologies.