[The function of spinocerebellar ataxia type 2 (SCA2) gene product, ataxin-2 and the mechanism of pathogenesis for SCA2].
This review summarizes the current progress in the research on the function of ataxin-2 and the mechanism of pathogenesis for SCA2. Recent studies on genomic structure of the human gene for SCA2 and on the mouse homolog of the SCA2 gene have shed light on the molecular mechanism of pathogenesis of SCA2. Analysis of the expression pattern of ataxin-2 in human brain revealed that both wild-type and mutant form of ataxin-2 were expressed and the wild-type ataxin-2 was localized in the cytoplasm with strong labeling of Purkinje cells and that intranuclear inclusions were not seen in SCA2 brain.
Sanpei
K
K
Department of Neurology, Sado General Hospital.
D000818:Animals; D000067528:Ataxins; D006801:Humans; D051379:Mice; D009419:Nerve Tissue Proteins; D011506:Proteins / Q000032:analysis / Q000502:physiology*; D013132:Spinocerebellar Degenerations / Q000235:genetics*
D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins