From: Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Clinical feature | Harding [6] | Filla et al. [37] | Dürr et al. [3] | Schöls et al. [34] | Lamont et al. [14] | 2Delatycki et al. [38] | McCabe et al. [39] | Salehi et al. [40] | Reetz et al. [41] | Present study |
---|---|---|---|---|---|---|---|---|---|---|
Country of study | UK | Italy | France | Germany | UK | Australia | Ireland | Iran | Europe (EFACTS) | Norway |
Year of publication | 1981 | 1990 | 1996 | 1997 | 1997 | 1999 | 2000 | 2014 | 2015 | 2015 |
No of patients | 115 | 80 | 140 | 38 | 56 | 51 | 58 | 22 | 592 | 27 |
Genetically confirmed diagnosis | No | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Age at onset (years), Mean(range),Median[interquartile range] a | 10.52 (1.7-27) | 11.6 (2-23) | 15.5 (2-51) | 14.15 (5-36) | 3 to 30 | 10.5 (SD±6.4) (1-26) | - | 10.8 (2-23) | 15.7 (SD±10.4), 13 [9-19] | 9.6 (2-20) |
Age at examination (years), Mean(range),Median[interquartile range] a | - | 25 (8-55) | - | - | - | - | - | - | 33.9 (SD±10.2) 32 [23-43] | 24.8 (11-69) |
Disease duration (years), Mean(range),Median[interquartile range] a | 22.0 (SD±12.8) (2-61) | 13.4 | 15.5 | 19.7 (SD±8.8) (5-42) | 13.6 (SD±9.9) | - | - | - | 18.3 (SD±10.4) 17 [10-25] | 15.2 (4-59) |
Male:female | 1:1.2 | 1:0.7 | 1:1.1 | 1:1.4 | - | 1:0.8 | - | 1:0.6 | 1:1.2 | 1:0.9 |
SARA (Standardized Rating Scale of Ataxia), mean(range), Median[interquartile range] | - | - | - | - | - | - | - | - | 23 [13-21] | 21.6 (6.5-38.5), 23 [13.8-32.3] |
Disability stage (1-7)b, Median | - | - | - | - | - | - | - | - | 5 | 5 |
GAA repeats shortest allele, Mean(range), Median[interquartile range] a | - | - | 630 (SD±230) | 800 (66-1360) | 2-5 kb | 739 (SD±191) | 762 (333-1053) | 594 (247-981) | 648 [384-800] | 614.6 (340-800), 700 [556-844] |
GAA repeats longest allele, Mean(range), Median[interquartile range] a | - | - | 890 (SD±230) | - | 2-5 kb | 973 (SD±162) | 885 (534-1200) | - | 912 [789-1050] | 759.2 (340-1040), 755 [670-840] |
Frataxin level in whole blood (pg/μg) | - | - | - | - | - | - | - | - | - | 0.198 |
Homozygous GAA-repeat expansion (%) | - | - | - | - | - | - | - | 100 | 97 | 93 |
Family history of FRDA (%) | - | 23.4 | - | - | - | - | - | - | 32 | 20 |
Consanguinity (%) | - | 28.1 | - | - | - | - | - | - | - | 7 |
Intake of Idebenone (%) | - | - | - | - | - | - | - | - | 27 | 52 |
Gait ataxia (%) | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | - | 100 |
Limb ataxia (%) | 99 | 94 | 99 | 100 | 100 | 100 | - | 100 | - | 100 |
Dysarthria (%) | 97 | 84 | 91 | 100 | 91 | 95 | 93 | 95 | - | 89 |
Lower limb areflexia (%) | 99 | 100 | 87 | 84 | 87 | 98 | 86 | 100 | - | 93 |
Extensor plantar reflexes (%) | 89 | 75 | 79 | 95 | 96 | 73.5 | 93 | 90 | - | 74 |
Reduced vibratory sense (%) | 73 | 91 | 78 | 83 | 87 | 88 | 89 | 63 | - | 93 |
Scoliosis (%) | 79 | 94 | 60 | 84 | - | 78 | 84 | - | - | 85 |
Foot deformity (%) | 55 | 90 | 55 | 82 | - | 74 | 79 | 54 | - | 81 |
Gaze-evoked nystagmus (%) | 20 | 29 | 40 | 39 | - | - | 40 | 45 | - | 18.5 |
Fixation instability (%) | - | - | - | 69 | - | - | - | - | - | 51.8 |
Saccadic pursuit eye movements (%) | 12 | - | 30 | 32 | - | - | 52 | - | - | 67 |
Dysphagia (%) | - | 30 | 27 | 76 | - | - | - | - | - | 78 |
Diabetes (%) | 10 | 14 | 32c | 6 | - | 8 | 7 | 4.5 | - | 7 |
Cardiomyopathy (echocardiography) (%) | 66d | 28 | 63 | 75 | - | 65 | 67 | - | - | 48 (n=26) |
Hearing loss (%)e | 8 | 9 | 13 | 39 | - | - | - | - | - | 26 |
Reduced vision (%)e | 18 | 13 | 6 | - | - | - | 9 | - | 22 | |
Psychiatric symptoms (%)f | - | - | - | - | - | - | - | - | - | 37 |
Atypical (%) | - | - | 24 | 25 | - | 8 | - | - | - | 7 |
Wheelchair bound (%) | 72 | 43 | - | 78 | - | 55 | - | 45 | - | 52 |
Age when wheelchair-bound (years) | 25.1 (SD±15.5) | 26.3 (SD±7.8) | 26.3 | 24.0 (SD±5.7) | - | 19.0 (SD±6.4) | - | - | - | 20.9 (SD±7.7) |
Disease duration to wheelchair-bound (years) | 15.5 (SD±7.41) | 13.8 (SD±5.8) | 10.8 (SD±6) | 11.3 (SD±4.1) | - | 10.1 (SD±4.4) | - | - | - | 11.1 (SD±6.4) |
Prognosis indexg | 0.31 | 0.31 | - | 0.25 | - | - | - | - | - | 0.29 |