Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor

Abstract Background To investigate the association of repeat expansion size in 10 common degenerative hereditary ataxia genes with essential tremor. These genes were spinocerebellar ataxia (SCA)-1 ( ATXN1 ), SCA-2 ( ATXN2 ), SCA-3 ( ATXN3 ), SCA-6 ( CACNA1A ), SCA-7 ( ATXN7 ), SCA-8 ( ATXN8OS ), SCA-10 ( ATXN10 ), SCA-12 ( PPP2R2B ), SCA-17 ( TBP ) and dentatorubral-pallidolysian atrophy (DRPLA) ( ATN1 ). Methods Genetic analysis of repeat size in 10 degenerative hereditary ataxia loci was performed in 323 essential tremor patients and 299 controls enrolled at Columbia University. To test for differences in the allele distribution between patients and controls, a CLUMP analysis was performed. Results None of the essential tremor patients had a repeat expansion in the intermediate or pathogenic range. Significant differences in the distribution of repeats in the ‘normal’ range for SCA2 and SCA8 (both p ≤ 0.02) were observed between essential tremor patients and controls. Conclusions Our study suggests that pathogenic repeat expansions in SCA loci are not associated with essential tremor.