title: A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.
abstract: BACKGROUND
  Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein.
  
  
  OBJECTIVE
  To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7.
  
  
  RESULTS
  We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7.
  
  
  CONCLUSIONS
  In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.
authors.affiliation: Department of Human Genetics, University of Utah, Salt Lake City, USA.
authors.forename: David D
authors.initials: DD
authors.lastname: Einum
authors.forename: Anna M
authors.initials: AM
authors.lastname: Clark
authors.forename: Jeannette J
authors.initials: JJ
authors.lastname: Townsend
authors.forename: Louis J
authors.initials: LJ
authors.lastname: Ptacek
authors.forename: Ying-Hui
authors.initials: YH
authors.lastname: Fu
mesh_terms: D000067719:Ataxin-7; D001483:Base Sequence; D001923:Brain Chemistry / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009410:Nerve Degeneration / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins