Skip to main content
. Author manuscript; available in PMC: 2012 Jul 1.
Published in final edited form as: Neurochem Res. 2011 Jan 6;36(7):1186–1197. doi: 10.1007/s11064-010-0393-y

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

Adapted from [24], Number of repeats adapted from [20], SCA pathology adapted from [16]

PolyQ exp Polyglutamine expansion, N/A Not applicable