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Table 2 DYT1 mutations in non-generalized primary dystonia

From: High-throughput mutational analysis of TOR1A in 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+
  1. G, generalized dystonia; M, multifocal dystonia; S, segmental dystonia; F, focal dystonia; FH, family history of dystonia; and NA, not applicable.