Table 1. Definition of the repeat, as originally published for the main SCA loci.
| ATAXIA | Gene name | Repeat | Referencesa |
|---|---|---|---|
| SCA1 | ATXN1 | (CAG)n(CAT)n(CAG)nb | Orr et al15; Chung et al16; Sobczak et al17 |
| DRPLA | ATN1 | (CAG)n | Koide et al (1994); Nagafuchi et al (1994) |
| SCA2 | ATXN2 | [(CAG)n CAA (CAG)n]nc | Sobczak et al17; Pulst et al18 |
| MJD/SCA3 | ATXN3 | (CAG)2 CAA AAG CAG CAA (CAG)n | Kawaguchi et al19; Maciel et al20 |
| SCA6 | CACNA1A | (CAG)n | Zhuchenko et al13 |
| SCA7 | ATXN7 | (CAG)n | David et al14 |
| SCA8 | ATXN8 | (CAG/TAG)n | Koob et al28 |
| SCA10 | ATXN10 | (ATTCT)nd | Matsuura et al (2000) |
| SCA12 | PPP2R2B | (CAG)n | Holmes et al (1999) |
| SCA17 | TBP | [(CAG)n (CAA)n (CAG)n]n | Koide et al21 |
a
Full references are available at: http://www.scabase.eu.
b
May be interrupted by 1 to 3, or exceptionally 4, CATs.
c
The CAG repeat may be pure or have 1–4 CAA interruptions.
d
Interruptions with multiple pentarepeats (ATGCT, ATTGT or TTTCT) or septarepeats (ATTCTAT, ATTTTCT and ATATTCT) or complex ATTGT-TTTCT repeats may be found.