Table 2.
DYT1 mutations in non-generalized primary dystonia
| Reference | Number of subjects with non-generalized primary dystonia | Number with ΔGAG mutations | Phenotypic description of ΔGAG-positive subjects |
| Valente et al. (1998) [15] | 108 (Europe) S = 48, F = 60 |
3 (2.8%) | #1: S(arms), early-onset, FH+, Jewish #2: F(arm), early-onset, FH-, Jewish #3: F(arm), early-onset, FH+ |
| Klein et al. (1999) [37] | 300 (United States, Germany, Italy; late-onset & FH+) S = 7, F = 293 |
3 (1.0%) | #1: S(both legs & one arm), late-onset, FH+ #2: F(cranial), late-onset, FH+ #3: F(NA), late-onset, FH+, Jewish |
| Brassat et al. (2000) [39] | 90 (France, FH-) S = 21, F = 69 |
1(1.1%) | #1: S(leg & trunk), early-onset, FH- |
| Kamm et al. (2000) [40] | 44 (Germany) F = 44 (writer's cramp) |
0 (0.0%) | NA |
| Friedman et al. (2000) [41] | 18 (United States) F = 18 (musicians) |
0 (0.0%) | NA |
| Major et al. (2001) [42] | 38 (Serbia) M = 1, S = 22, F = 15 |
2 (5.3%) | #1: S(both arms), early-onset, FH- #2: M(right arm & left leg), early-onset, FH- |
| Matsumoto et al. (2001) [43] | 173 (Japan) M = 4, S = 29, F = 144, |
3 (1.7%) | #1: F(arm), early-onset, FH+ #2: F(arm), early-onset, FH+ #3: F(leg), late-onset, FH+ |
| Maniak et al. (2003) [8] | 130 (Germany) S = 10, F = 120 |
0 (0.0%) | NA |
| Grundmann et al. (2003)[17] | 244 (Germany) M = 11, S = 46, F = 187 |
4 (1.6%) | #1: M(both legs & right arm), early-onset, FH- #2: M(both arms & cranial), late-onset, FH+ #3: S(both arms), early-onset, FH+ #4: S(both arms), early-onset, FH- |
| Kabakci et al. (2004) [18] | 126 (Germany) F + S = 126 |
0 (0%) | NA |
| Im et al. (2004) [44] | 155 (Korea) S = 21, F = 134 |
2 (1.3%) | #1: S(arm & shoulder), early-onset, FH+ #2: S(arm & neck), early-onset, FH- |
| Dhaenens et al. (2005) [45] | 150 (France) F = 150 |
1 (0.7%) | #1: F(arm), onset?, FH+ |
| Lin et al. (2006) [46] | 186 (Taiwan) M = 3, S = 47, F = 136 |
2 (1.1%) | #1: F(leg), early-onset, FH+ #2: S(neck & trunk), late-onset, FH+ |
| Jamora et al. (2006) [47] | 54 (Singapore) M = 1, S = 11, F = 41 |
0 (0.0%) | NA |
| Naiya et al. (2006) [48] | 150 (India) F = 138, S = 12 |
0 (0%) | NA |
| Gajos et al. (2007) [31] | 48 (Poland) G + S + F = 48 |
F = 2 (NA) | #1: F(arm), late-onset, FH+ #2: F(arm), early-onset, FH+ |
G, generalized dystonia; M, multifocal dystonia; S, segmental dystonia; F, focal dystonia; FH, family history of dystonia; and NA, not applicable.