Skip to main content

Table 2 CGG repeat length, international cooperative ataxia rating scale (ICARS) scores, radiological and neurological evaluations, and clinical classification for each individual FMR1 gene premutation carriers

From: Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

ID

CGG repeats

ICARS

T2 scan

Neurological exam

Clinical classification

Speech

Kinetic

Oculomotor

Gait and posture

Total

1

87

0

0

1

1

2

Generalized WM lesion, cerebral atropy type 1

No gait ataxia, no tremor

No FXTASa

2

102

0

0

1

2

3

Generalized white matter lesion; cerebral atrophy type 2

No gait ataxia, no tremor

No FXTAS

3

58

0

0

1

3

4

(−)

No gait ataxia, no tremor

No FXTAS

4

58

0

0

0

2

2

(−)

Tremor, no gait ataxia

No FXTAS

5

62

0

1

0

1

2

Mild white matter lesion, dot-like white matter hyperintensity

Tremor, no gait ataxia

No FXTAS

6

68

1

0

0

0

1

Mild white matter lesion, dot-like white matter hyperintensity

No gait ataxia, no tremor

No FXTAS

7

80

0

0

0

1

1

Mild white matter lesion, dot-like white matter hyperintensity, cerebral atrophy type 2

No gait ataxia, no tremor

No FXTAS

8

99

0

2

0

5

7

(−)

Mild gait ataxia, mild tremor

Probable FXTAS

9

107

0

1

2

5

8

 

Gait ataxia, tremor

Probable FXTAS

10

81

0

1

0

4

5

Cerebral atrophy type 1

Gait ataxia, tremor

Probable FXTAS

11

75

2

7

3

7

19

 

Gait ataxia, tremor

Probable FXTAS

12

58

0

3

0

5

8

 

Gait ataxia, tremor

Probable FXTAS

13

85

1

2

2

7

12

MCP sign, generalized white matter lesion; cerebral atrophy type 3

Gait ataxia, tremor

FXTAS

14

93

0

5

0

3

8

Suspected MCP sign, 4th ventricle widening, cerebral atrophy type 1, cerebellum and brainstem atrophy

Tremor, no gait ataxia

FXTAS

15

102

0

0

0

0

0

  

Inconclusive

16

90

0

2

2

2

6

 

Tremor, no gait ataxia

Inconclusive

17

64

       

Inconclusive

18

78

     

Mild white matter lesion, dot-like white matter hyperintensity

 

Inconclusive

  1. 11: CGG repeat length was identified from individual’s previous genetic exam at the Department of Human Genetics at Emory University School of Medicine
  2. 14: CGG repeat length was identified from individual’s previous genetic exam at the Center for Genetic Services in Corpus Christi in Taxes
  3. (−) entry: no abnormality were identified
  4. No entry: data were not collected
  5. a No FXTAS: FMR1 gene premutation carriers who currently do not how radiological and neurological signs of FXTAS