Table 2.
Detailed demographic, genetic, and clinical characteristics for each FMR1 gene premutation carrier.
| ID | Age | Sex | CGG | ICARS | T2 Scan | Neurological Exam | Clinical Classification |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Speech | Kinetic | Oculomotor | Gait Posture | Total | |||||||
| 1 | 55 | F | 87 | 0 | 0 | 1 | 1 | 2 | Generalized white matter lesion, cerebral atrophy type 1 | Tremor (−) Gait ataxia (−) | FXTAS− |
| 2 | 61 | F | 102 | 0 | 0 | 1 | 2 | 3 | Generalized white matter lesion, cerebral atrophy type 2 | Tremor (−) Gait ataxia (−) | FXTAS− |
| 3 | 58 | M | 60 | 0 | 0 | 1 | 3 | 4 | (−) | Tremor (−) Gait ataxia (−) | FXTAS− |
| 4 | 58 | M | 63 | 0 | 0 | 0 | 2 | 2 | (−) | Tremor (+) Gait ataxia (−) | FXTAS− |
| 5 | 46 | F | 68 | 0 | 0 | 0 | 0 | 0 | Mild white matter lesion, white matter hypersensitivity | Tremor (−) Gait ataxia (−) | FXTAS− |
| 6 | 64 | F | 80 | 0 | 0 | 0 | 1 | 1 | Mild white matter lesion, white matter hypersensitivity, cerebral atrophy type 2 | Tremor (−) Gait ataxia (−) | FXTAS− |
| 7 | 54 | F | 99 | 0 | 2 | 0 | 5 | 7 | Mild cerebellar features | Tremor (+): mild | Probable |
| 8 | 59 | F | 107 | 0 | 1 | 2 | 5 | 8 | Probable | ||
| 9 | 71 | M | 85 | 1 | 2 | 2 | 7 | 12 | Generalized white matter lesion, cerebral atrophy type 3 | Tremor (+) Gait ataxia (+) | Definite |
| 10 | 52 | F | 81 | 0 | 1 | 0 | 4 | 5 | Cerebral atrophy type 1 | Tremor (+) Gait ataxia (+) | Probable |
| 11 | 77 | F | 75 | 2 | 7 | 3 | 7 | 19 | Tremor (+) Gait ataxia (+) | Probable | |
| 12 | 67 | F | 62 | 0 | 1 | 0 | 1 | 2 | Mild white matter lesion, white matter hypersensitivity | Tremor (+) Gait ataxia (−) | Possible |
| 13 | 65 | M | 58 | 0 | 3 | 0 | 5 | 8 | (−) | Tremor (+) Gait ataxia (+) | Probable |
| 14 | 57 | M | 93 | 0 | 5 | 0 | 3 | 8 | Suspected middle cerebellar peduncle sign, cerebral atrophy type 1, fourth ventricle widening, atrophy of cerebellum and brainstem | Tremor (+) Gait ataxia (−) | Possible |
| 15 | 68 | F | (−) | Tremor (+) Gait ataxia (+) | Probable | ||||||
| 16 | 62 | F | 102 | 0 | 0 | 0 | 0 | 0 | Inconclusive | ||
| 17 | 70 | F | 90 | 0 | 2 | 2 | 2 | 6 | Tremor (+) Gait ataxia (−) | Inconclusive | |
| 18 | 61 | M | 64 | Inconclusive | |||||||
| 19 | 59 | F | 78 | Mild white matter lesion, white matter hypersensitivity | Inconclusive | ||||||
(−) entry: no abnormality was identified. No entry: data was not collected.