From: High-throughput mutational analysis of TOR1A in primary dystonia
Clinical diagnosis | Number (age of onset)a | Family historyb | Gender | Race/Ethnicity | TOR1Aexon 5 mutations | |||
---|---|---|---|---|---|---|---|---|
 |  |  | Male | Female | Non-Jewish Caucasian | Jewish | Other |  |
Spasmodic dysphonia | 422 (45.0 ± 15.7, 7–84) | 7.3% | 91 | 331 | 368 | 2 | 52 | 1 ΔGAG |
Cervical dystonia | 285 (43.7 ± 13.8, 4 – 76) | 8.4% | 71 | 214 | 268 | 1 | 16 | 0 |
Blepharospasm | 67 (54.4 ± 10.1, 20–73) | 10.4% | 20 | 47 | 61 | 2 | 4 | 0 |
Writer's cramp | 41 (35.3 ± 14.4, 7–60) | 7.3% | 17 | 24 | 35 | 0 | 6 | 0 |
Oromandibular dystonia | 16 (48.9 ± 15.4, 20–70) | 6.3% | 3 | 13 | 13 | 1 | 2 | 0 |
Other primary focal dystonia | 38 (37.8 ± 18.2, 10–74) | 5.3% | 14 | 24 | 34 | 0 | 4 | 0 |
Segmental dystonia | 112 (48.7 ± 12.8, 14–74) | 13.4% | 39 | 73 | 101 | 0 | 11 | 0 |
Multifocal dystonia | 16 (30.0 ± 15.9, 7–67) | 25.0% | 3 | 13 | 15 | 0 | 1 | 1 ΔGAG |
Generalized dystonia | 17 (18.2 ± 15.3, 1–57) | 0.0% | 7 | 10 | 17 | 0 | 0 | 0 |
Dystonia totals | 1014 (44.3 ± 15.6, 1–84) | 8.6% | 265 | 749 | 912 | 6 | 96 | 2 ΔGAG |
Parkinson's disease | 42 (63.0 ± 12.5, 28–82) | NA | 19 | 23 | 39 | 0 | 3 | 0 |
Restless legs syndrome | 31 (40.6 ± 18.3, 8–66) | NA | 12 | 19 | 29 | 0 | 2 | 0 |
Essential tremor | 14 (50.9 ± 15.4, 30–70) | NA | 9 | 5 | 13 | 0 | 1 | 0 |
Other movement disorders | 13 (49.8 ± 17.3, 27–71) | NA | 9 | 4 | 12 | 0 | 1 | 0 |
Neurologically-normal controls | 150 (56.5 ± 14.5, 23–83)c | NA | 79 | 71 | 135 | 0 | 15 | 0 |
ΔGAG-negative dystonia | 88 (NA) | NA | NA | NA | NA | NA | NA | 0 |
ΔGAG DYT1 dystonia | 8 (NA) | NA | NA | NA | NA | NA | NA | 8 ΔGAG |
Grand totals | 1360 | 10 ΔGAG |