Table 4 Reports of phenotypes in Friedreich ataxia patients in Norwegian patients compared to other case series

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

32^c

6

-

8

7

4.5

-

7

Cardiomyopathy (echocardiography) (%)

66^d

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 index^g

0.31

0.31

-

0.25

-

-

-

-

-

0.29