Table 1.
Known SCA genes.
| SCA type | OMIM Number | Locus | Gene Name | Mutation type | References |
|---|---|---|---|---|---|
| SCA1 | 164400 | 6p22.3 | ATXN1 | CAG repeat | (Orr et al., 1993) |
| SCA2 | 183090 | 12q24.13 | ATXN2 | CAG repeat | (Pulst et al., 1996; Sanpei et al., 1996) |
| SCA3 | 109150 | 14p32.12 | ATXN3 | CAG repeat | (Kawaguchi et al., 1994; Takiyama et al., 1994) |
| SCA5 | 600224 | 11q13.2 | SPTBN2 | Deletion, MM | (Bürk et al., 2004; Ikeda et al., 2006) |
| SCA6 | 183086 | 19p13.13 | CACNA1A | CAG repeat | (Zhuchenko et al., 1997) |
| SCA7 | 164500 | 3p14.1 | ATXN7 | CAG repeat | (David et al., 1997) |
| SCA8 | 608768 | 13q21 | ATXN8OS | CTG repeat (non-coding) | (Koob et al., 1999) |
| SCA10 | 603516 | 22q13.31 | ATXN10 | ATTCT repeat | (Grewal et al., 1998; Matsuura et al., 2000; Zu et al., 1999) |
| SCA11 | 604432 | 15q15.2 | TTBK2 | Deletion | (Houlden et al., 2007) |
| SCA12 | 604326 | 5q32 | PPP2R2B | CAG repeat (non-coding) | (Holmes et al., 1999) |
| SCA13 | 605259 | 19q13.33 | KCNC3 | MM | (Waters et al., 2006, 2005) |
| SCA14 | 605361 | 19q13.42 | PRKCG | MM | (Chen et al., 2003) |
| SCA15 | 606658 | 3p26.1 | ITPR1 | Deletion | (Storey et al., 2001; van de Leemput et al., 2007) |
| SCA16 | 606658 | 3p26.1 | ITPR1 | Deletion | (Storey et al., 2001; van de Leemput et al., 2007) |
| SCA17 | 607136 | 6q27 | TBP | CAG repeat | (Nakamura, 2001) |
| SCA19/22 | 607346 | 1p13.2 | KCND3 | MM | (Chung et al., 2003; Duarri et al., 2012; Lee et al., 2012; Verbeek et al., 2002) |
| SCA20 | 608687 | 11q12 | DAGLA | 12 genes duplication | (Knight et al., 2008, 2004) |
| SCA21 | 607454 | 1p36.33 | TMEM240 | MM | (Delplanque et al., 2014) |
| SCA23 | 610245 | 20p13 | PDYN | MM, frameshift | (Bakalkin et al., 2010; Verbeek et al., 2004) |
| SCA26 | 609306 | 19p13.3 | EEF2 | MM | (Hekman et al., 2012; Yu et al., 2005) |
| SCA27 | 609307 | 13q13.1 | FGF14 | MM | (van Swieten et al., 2003) |
| SCA28 | 610246 | 18p11.21 | AFG3L2 | MM | (Cagnoli et al., 2006; Di Bella et al., 2010) |
| SCA29 | 117360 | 3p26.1 | ITPR1 | MM | (Dudding et al., 2004; Huang et al., 2012) |
| SCA31 | 117210 | 16q22 | BEAN | TGGAA repeat (non-coding) | (Hirano et al., 2004; Sato et al., 2009) |
| SCA34 | 133190 | 6q14 | ELOVL4 | MM | (Cadieux-Dion et al., 2014) |
| SCA35 | 613908 | 20p13 | TGM6 | MM | (Wang et al., 2010) |
| SCA36 | 614153 | 20p13 | NOP56 | non-coding repeat | (Kobayashi et al., 2011) |
| SCA38 | 615957 | 6p12 | ELOVL5 | MM | (Di Gregorio et al., 2014) |
| SCA40 | 616053 | 14q32.12 | CCDC88C | MM | (Tsoi et al., 2014) |
| SCA41 | 616410 | 4q27 | TRPC3 | MM | (Fogel et al., 2015) |
| SCA42 | 616795 | 17q21.33 | CACNA1G | MM | (Coutelier et al., 2015a) |
MM = missense mutation.