TABLES
Definition of the repeat, as originally published for the main SCA loci
(modifed from Table 1 of Sequeiros J, Seneca S and Martindale J: Consensus and controversies in best practices for
molecular genetic testing of the spinocerebellar ataxias. Eur J Hum Genet 18:1173-6, 2010)
ATAXIA | GENE NAME | REPEAT | REFERENCES 1 |
---|---|---|---|
SCA1 | ATXN1 | (CAG)n(CAT)n(CAG)n2 | (Orr et al, 1993; Chung et al, 1993; Sobczak et al, 2004) |
DRPLA | ATN1 | (CAG)n | (Koide et al, 1994; Nagafuchi et al, 1994) |
SCA2 | ATXN2 | [(CAG)n CAA (CAG)n]n 3 | (Pulst et al, 1996; Sobczak et al, 2004) |
MJD/SCA3 | ATXN3 | (CAG)2 CAA AAG CAG CAA (CAG)n | (Kawaguchi et al, 1994; Maciel et al, 1995) |
SCA6 | CACNA1A | (CAG)n | (Zhuchenko et al, 1997) |
SCA7 | ATXN7 | (CAG)n | (David et al, 1997) |
SCA8 | ATXN8 | (CAG/TAG)n | (Koob et al, 1999) |
SCA10 | ATXN10 | (ATTCT)n 4 | (Matsuura et al, 2000) |
SCA12 | PPP2R2B | (CAG)n | (Holmes et al, 1999) |
SCA17 | TBP | [ (CAG)n (CAA)n (CAG)n ]n | (Koide et al, 1999) |
1 Full references are available at: http://www.scabase.eu
2 May be interrupted by 1 to 3, or exceptionally 4, CATs.
3 The CAG repeat may be pure or have 1 to 4 CAA interruptions.
4 Interruptions with multiple pentarepeats (ATGCT, ATTGT or TTTCT) or septarepeats (ATTCTAT, ATTTTCT and ATATTCT) or complex ATTGT-TTTCT repeats may be found.
Last Update:
June 6, 2016