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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.