title: Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.
abstract: OBJECTIVE
  Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS.
  
  
  METHODS
  We assessed the polyQ lengths of ataxin 1, ataxin 3, ataxin 6, ataxin 7, TBP, atrophin 1, and huntingtin in several hundred patients with sporadic ALS and healthy controls.
  
  
  RESULTS
  Other than ataxin 2, we did not identify a significant association with the other polyQ genes and ALS.
  
  
  CONCLUSIONS
  These data indicate that the effects of ataxin 2 polyQ expansions on ALS risk are likely to be rooted in the biology of ataxin 2 or ataxin 2-specific interactions, rather than the presence of an expanded polyQ repeat per se. These findings have important consequences for understanding the role of ataxin 2 in ALS pathogenesis and provide a framework for future mechanistic studies.
authors.affiliation: Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: T
authors.initials: T
authors.lastname: Lee
authors.forename: Y R
authors.initials: YR
authors.lastname: Li
authors.forename: A
authors.initials: A
authors.lastname: Chesi
authors.forename: M P
authors.initials: MP
authors.lastname: Hart
authors.forename: D
authors.initials: D
authors.lastname: Ramos
authors.forename: N
authors.initials: N
authors.lastname: Jethava
authors.forename: D
authors.initials: D
authors.lastname: Hosangadi
authors.forename: J
authors.initials: J
authors.lastname: Epstein
authors.forename: B
authors.initials: B
authors.lastname: Hodges
authors.forename: N M
authors.initials: NM
authors.lastname: Bonini
authors.forename: A D
authors.initials: AD
authors.lastname: Gitler
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels / Q000235:genetics; D042622:DNA Repeat Expansion / Q000235:genetics*; D006801:Humans; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010455:Peptides / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics; D035181:TATA-Box Binding Protein / Q000235:genetics; D020864:Calcium Channels, N-Type
chemical_list: D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010455:Peptides; D012097:Repressor Proteins; D035181:TATA-Box Binding Protein; C000593749:ATXN1 protein, human; C000593829:ATXN7 protein, human; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C086055:HTT protein, human; C509817:TBP protein, human; C095278:atrophin-1; C097188:polyglutamine; C092341:ATXN3 protein, human