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Table 1 Clinical diagnoses and demographics

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
  1. aMean +/- standard error, range (yrs).
  2. bFirst- or second-degree relative with dystonia.
  3. cAge at study enrollment.
  4. NA = not available or applicable.