Table 1. Clinical signs in FXTAS*.
| Clinical Feature | Affected Subjects (%) (n=20) |
|---|---|
| Cerebellar ataxia | |
| Dysarthria | 78 |
| Dysmetria | 93 |
| Postural & gait abnormalities | 86 |
| Tremor | |
| Intention | 70 |
| Resting alone | 10 |
| Parkinsonism | |
| Mild bradykinesia | 57 |
| Mild rigidity | |
| Upper extremity | 71 |
| Lower extremity | 35 |
| Cogwheeling | 5 |
| Peripheral neuropathy | 60 |
| Other medical conditions | |
| Urinary incontinence | 55 |
| Fecal incontinence | 30 |
| Impotence | 80 |
| History of congestive heart failure | 55 |
| Hypertension | 50 |
*
Adapted from a review of 20 men with FXTAS identified because of a family history of fragile X syndrome, mean age (± SD) 71 ± 6, mean CGG repeat 84 (range 69-99), from Jacquemont et al. (8)