Table 1.
SCAs–summary of genetic characteristics
| SCA | Locus | Gene | Mutation (Expansion) |
|---|---|---|---|
| SCA1 | 6p22‐23 | ATXN1 | CAG |
| SCA2 | 12q23‐24.1 | ATXN2 | CAG |
| SCA3 | 14q32.1 | ATXN3 | CAG |
| SCA4 | 16q22.1 | SCA4 | – |
| SCA5 | 11q13.2 | SPTBN2 | – |
| SCA6 | 19p13 | CACNA1A | CAG |
| SCA7 | 3p21.1‐p12 | ATXN7 | CAG |
| SCA8 | 13q21 | ATXN80S | CAG/CTG |
| SCA10 | 22q13.31 | ATXN10 | ATTCT |
| SCA11 | 15q15.2 | TTBK2 | – |
| SCA12 | 5q32 | PPP2R2B | CAG |
| SCA13 | 19q13.33 | KCNC3 | – |
| SCA14 | 19q13.4 | PRKCG | – |
| SCA15 | 3p26.1 | ITPR1 | Allelic to SCAs 16, 29 |
| SCA16 | 3p26.1 | ITPR1 | Allelic to SCAs 15, 29 |
| SCA17 | 6q27 | TBP | CAG |
| SCA18 | 7q22‐q32 | IFRD1 | – |
| SCA19 | 1p13.2 | KCND3 | Allelic to SCA22 |
| SCA20 | 11p11.2‐q13.3 | SCA20 | Multiple gene duplication |
| SCA21 | 7p21.3‐p15.1 | SCA21 | – |
| SCA22 | 1p13.2 | KCND3 | Allelic to SCA19 |
| SCA23 | 20p13 | PDYN | – |
| SCA24 | – | – | – |
| SCA25 | 2p21‐p15 | SCA25 | – |
| SCA26 | 19p13.3 | EEEF2 | – |
| SCA27 | 13q34 | FGF14 | – |
| SCA28 | 18p11 | AFG3L2 | – |
| SCA29 | 3p26.1 | ITPR1 | Allelic to SCAs 15, 16 |
| SCA30 | 4q34.3‐q35.1 | SCA30 | – |
| SCA31 | 16q22 | SCA31 | TGGAA |
| SCA32 | 7q32‐q33 | SCA32 | – |
| SCA33 | – | – | – |
| SCA34 | 6q12.3‐q16.1 | ELOVL4 | – |
| SCA35 | 2Op13 | TGM6 | – |
| SCA36 | 20p13 | NOP36 | GGCCTG |
| SCA37 | 1p32 | SCA37 | – |
| SCA38 | 6p12.1 | ELOVLE5 | – |
| SCA39 | – | – | – |
| SCA40 | 14q32 | CCDC88C | – |
| SCA41 | 4q27 | TRPC3 | – |
| SCA42 | 17q21.33 | CACNA1G | – |
| SCA43 | 3q25.2 | MME | – |
| SCA44 | 6q24.3 | GRM1 | – |
| SCA45 | 5p33.1 | FAT2 | – |
| SCA46 | 19q13.2 | PLD3 | – |
| SCA47 | 1p35.2 | PUM1 | – |
| SCA48 | 16p13.3 | STUB1 | – |
| DRPLA | 12p13.31 | ATN1 | CAG |
SCA, spinocerebellar ataxia; DRPLA, dentatorubro‐pallidoluysian atrophy.