Pair | Neurological phenotype | Onset of neurological signs | CGG repeats | Activation ratio (SB) | Activation ratio (mPCR) | FXTAS motor rating scale | Neuro-imaging | FXTAS |
---|---|---|---|---|---|---|---|---|
1 | Kinetic tremor, gait ataxia, parkinsonism | 70 | 20/75, 79 | 20% | 34% | 20 | Hyperintensities in white matter, midline pons | Definite FXTAS |
Mild gait ataxia | 60 | 23/118, 139, >200 | 50% | 39% | 7 | Hyperintensities (mild) in white matter | Possible FXTAS | |
2 | Kinetic tremor, gait ataxia, parkinsonism | 75 | 25/68, 80, 86 | 20% | 29% | 44 | Hyperintensities in deep white matter, brainstem, cerebellum | Definite FXTAS |
Kinetic tremor, gait ataxia, parkinsonism | 90 | 25/90, 99 | 90% | 79% | 74 | N/A | Probable FXTAS | |
3 | Numbness, dystonia of feet | 51 | 27/66, 68 | 20% | 16% | 1 | N/A | No |
Numbness of feet | 61 | 27/58, 69, 71 | 50% | 45% | 4 | N/A | No | |
4 | Mild kinetic tremor, falls | 72 | 30/72, 74 | 10% | 27% | 15 | Hyperintensities (mild) in white matter | Possible FXTAS |
Mild kinetic tremor | 79 | 30/79, 82 | 40% | 35% | 7 | N/A | No | |
5 | Mild kinetic tremor, mild gait ataxia | 60 | 20/91, 95 | 80% | 81% | 12 | N/A | Probable FXTAS |
Kinetic tremor, falls, dystonia | 54 | 30/102, 110 | 20% | 30% | 7 | N/A | No | |
6 | Kinetic tremor, gait ataxia, parkinsonism | 78 | 29/77, 80 | 80% | 81% | 14 | N/A | Probable FXTAS |
Kinetic tremor, gait ataxia, parkinsonism | 83 | 32/76, 78 | 40% | 29% | 13 | N/A | Probable FXTAS | |
7 | None | N/A | 30, 94, 100 | 90% | 82% | 2 | N/A | No |
None | N/A | 30, 94, 100 | 10% | 22% | 4 | N/A | No |