Table 1. Features of Spinocerebellar ataxias linked with abnormal neuronal Ca2+ signaling.
| Disease subtype | Locus | Protein | Mutation | Normal repeats | SCA patient repeats | Pathology | Effect on calcium signaling |
|---|---|---|---|---|---|---|---|
| SCAl | 6p | Ataxin 1 | PolyQ exp | 6–39 | 39–82 | >75% PC loss | Increase |
| SCA2 | 12q | Ataxin 2 | PolyQ exp | 14–31 | 33–64 | >75% PC loss | Increase |
| SCA3 | 14q | Ataxin 3 | PolyQ exp | 12–42 | 52–86 | <25% PC loss | Increase |
| SCA5 | 11q | β-III spectrin | Non-repeat mutations & deletions | N/A | N/A | No data | Increase |
| SCA6 | 19p | CACNA1A | PolyQ exp | 4–18 | 19–30 | >75% PC loss | Increase/decrease |
| SCA14 | 19q | PKCγ | Non-repeat mutations | N/A | N/A | No data | Increase/decrease |
| SCA15/16 | 3p | ITPR1 | Non-repeat deletions or mutations | N/A | N/A | No data | Decrease |