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