Table 1.
Clinical diagnoses and demographics
| Clinical diagnosis | Number (age of onset)a | Family historyb | Gender | Race/Ethnicity | TOR1A exon 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 | ||||||
aMean +/- standard error, range (yrs).
bFirst- or second-degree relative with dystonia.
cAge at study enrollment.
NA = not available or applicable.