Friedreich's ataxia | Ataxia | ataxia | Ataxia Telangiectasia (A-T) | Ataxia telangiectasia |
In the 1980s, Botez pioneered studies on the effects of lesions to the cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage, such as GRID2-Lc Lurcher.
This protein binds to the C-terminus of ataxin-2, and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2).