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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.