title: 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.
authors.affiliation: Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: lc654@cumc.columbia.edu.
authors.forename: L N
authors.initials: LN
authors.lastname: Clark
authors.affiliation: Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: xy2177@cumc.columbia.edu.
authors.forename: X
authors.initials: X
authors.lastname: Ye
authors.affiliation: Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: xl2269@cumc.columbia.edu.
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: km2825@columbia.edu.
authors.forename: K
authors.initials: K
authors.lastname: Mirzozoda
authors.affiliation: Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA; Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA. Electronic address: elan.louis@yale.edu.
authors.forename: E D
authors.initials: ED
authors.lastname: Louis
mesh_terms: D000328:Adult; D000067528:Ataxins / Q000235:genetics*; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D000067528:Ataxins
keywords: CAG repeat expansions; Essential tremor; Genetics; Spinocerebellar ataxia loci