Table 2 Clinical characteristics of included Friedreich ataxia patients in Norway at time of study
From: Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Family – patient | Gender | Age at onset (in years) | Duration (in years) | SARAa | Presenting symptom | Disability stageb | Extensor plantar response | Reduced virbratory sense | Dysphagia | Dysarthria | Scoliosis | Diabetes | Depression | Heart involvement | Frataxin pg/mcg | GAA repeats, Allele 1 | GAA repeats, Allele 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1-1 | F | 6 | 11 | 19 | Cardiomyopathy | 4 | Bilateral | y | n | y | y | n | y | y | 0.126 | 700 | 700 |
2-1 | M | 8 | 8 | 19 | Unsteady | 4 | Bilateral | y | y | y | y | n | n | n | 0.150 | 570 | 870 |
3-1 | F | 7 | 10 | 23 | Unsteady | 5 | Bilateral | y | y | y | y | n | n | n | 0.135 | 740 | 1000 |
4-1 | M | 18 | 11 | 25.5 | Unsteady | 5 | Unilateral | y | y | y | y | n | y | y | 0.305 | 640 | 640 |
4-2 | M | 2 | 15 | 31 | Unsteady | 6 | Equivocal | y | y | y | y | n | n | y | 0.045 | 700 | 700 |
5-1 | M | 4 | 17 | 28 | Unsteady | 6 | Bilateral | y | n | y | y | y | n | n | 0.079 | 700 | 700 |
6-1 | F | 6 | 8 | 14.5 | Unsteady | 4 | Unilateral | y | n | y | y | n | y | n | 0.132 | 700 | 700 |
7-1 | M | 3 | 20 | 33 | Unsteady | 6 | Bilateral | y | y | y | y | n | y | y | 0.042 | 800 | 800 |
8-1 | F | 6 | 6 | 11.5 | Unsteady | 3 | Normal | n | n | n | y | n | n | n | 0.084 | 800 | 800 |
9-1 | M | 17 | 9 | 11 | Unsteady | 4 | Equivocal | y | n | n | n | n | n | n | 0.207 | 370 | 700 |
10-1 | M | 6 | 12 | 12.5 | Unsteady. | 3 | Bilateral | y | y | y | y | n | y | y | 0.130 | 770 | 770 |
11-1 | M | 15 | 4 | 9 | Unsteady | 2 | Normal | n | y | y | y | n | n | n | 0.307 | 340 | 940 |
12-1 | M | 10 | 59 | 31 | Unsteady | 6 | Unilateral | y | y | y | y | n | y | y | 0.256 | 340 | 800 |
13-1 | F | 12 | 19 | 32 | Unsteady | 6 | Bilateral | y | y | y | y | n | n | n | 0.020 | 700 | 1040 |
13-2 | F | 10 | 23 | 38.5 | Unsteady | 6 | Bilateral | y | y | y | y | n | y | n | 0.068 | 740 | 740 |
14-1 | F | 20 | 11 | 10.5 | Unsteady | 3 | Bilateral | y | y | y | y | n | n | n | 0.904 | 400 | 400 |
14-2 | F | 20 | 9 | 13.5 | Unsteady | 3 | Bilateral | y | y | y | y | n | y | n | 0.826 | 340 | 340 |
15-1 | M | 15 | 7 | 28 | Unsteady | 6 | Bilateral | y | y | y | n | n | n | y | 0.103 | 670 | 870 |
16-1 | M | 5 | 9 | 12.5 | Unsteady | 3 | Normal | y | y | y | y | n | n | y | 0.179 | 470 | 870 |
17-1 | F | 5 | 6 | 11 | Unsteady | 2 | Normal | y | n | n | n | n | n | n | 0.058 | 700 | 700 |
18-1 | M | 15 | 33 | 33 | Unsteady | 6 | Bilateral | y | y | y | y | n | n | n | 0.180 | 540 | 940 |
19-1 | F | 17 | 17 | 24 | Unsteady | 5 | Unilateral | y | y | y | n | n | n | n | 0.323 | 340 | 800 |
20-1 | F | 5 | 6 | 6.5 | Unsteady | 2 | Bilateral | y | n | y | y | n | n | y | 0.109 | 700 | 700 |
21-1 | M | 13 | 18 | 31 | Unsteady | 5 | Bilateral | y | y | y | y | n | n | y | 0.215 | 700 | 700 |
22-1 | M | 4 | 21 | 32 | Unsteady | 6 | Bilateral | y | y | y | y | y | y | y | 0.031 | 740 | c.467T>C |
23-1 | F | 7 | 33 | 30 | Unsteady | 6 | Bilateral | y | y | y | y | n | n | y | 0.126 | 770 | g.120032_ 122808del |
24-1 | F | 3 | 9 | 14 | Cardio myopathy | 3 | Normal | y | y | y | y | n | n | y | na | na | na |
Summary mean (SD) or % | M: 52 % F: 48 % | 9.6 (5.7) | 15.2 (11.6) | 21.6 (9.6) | Unsteady: 93 % Cardiomyopathy: 7% | 4.4 (1.5) | Bilateral: 59 % unilateral: 15 % Equivocal: 7 % normal: 19 % | 93 % | 93 % | 89 % | 85 % | 7 % | 33 % | 48 % | 0.198 (0.214) | 615 (161.8) | 759 (160.6) |