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      Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

      1 , , ,
      Annals of neurology
      Wiley

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          Abstract

          Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of a CAG trinucleotide repeat located in the coding region of the human SCA2 gene. The SCA2 gene product, ataxin-2, is a basic protein with two domains (Sm1 and Sm2) implicated in RNA splicing and protein interaction. However, the wild-type function of ataxin-2 is yet to be determined. To help clarify the function of ataxin-2, we produced antibodies to three antigenic peptides of ataxin-2 and analyzed the expression pattern of ataxin-2 in normal and SCA2 adult brains and cerebellum at different developmental stages. These studies revealed that (1) both wild-type and mutant forms of ataxin-2 were synthesized; (2) the wild-type ataxin-2 was localized in the cytoplasm in specific neuronal groups with strong labeling of Purkinje cells; (3) the level of ataxin-2 increased with age in Purkinje cells of normal individuals; and (4) ataxin-2-like immunoreactivity in SCA2 brain tissues was more intense than in normal brain tissues, and intranuclear ubiquitinated inclusions were not seen in SCA2 brain tissues.

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          Author and article information

          Journal
          Ann Neurol
          Annals of neurology
          Wiley
          0364-5134
          0364-5134
          Feb 1999
          : 45
          : 2
          Affiliations
          [1 ] CSMC Burns and Allen Research Institute, and Division of Neurology, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA.
          Article
          10.1002/1531-8249(199902)45:2<232::aid-ana14>3.0.co;2-7
          9989626
          9d7c5914-604c-4569-a7f4-3a64eb271fbd
          History

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