Table 2 Genetic and clinical features as provided from the referring physician of the eight patients (five females/three males) with FMR1 premutation/alleles in the grey zone
Patient | (CGG)n allele 1/2 | Symptoms | Age at onset | Family history | |
|---|---|---|---|---|---|
I | 30 | 57 | Slowly progressive stance and gait ataxia and dysarthria | 56-58 | no |
II | 53 | Stance and gait ataxia | NA | no | |
III | 30 | 49 | Unsteady gait with a tendency to fall | NA | no |
IV | 31 | 47 | Cerebellar ataxia | NA | affected brother |
V | 30 | 45 | Gait ataxia, dysarthria, nystagmus, diagnosed with fibromyalgia | 59-61 | no |
VI | 41 | Progressive gait disturbance, erectile dysfunction, micturition disturbance | NA | no | |
VII | 41 | Unsteady gait, coordination disturbances of the hands, saccadic eye movements, mild dysarthria | 49-51 | no | |
VIII | 32 | 41 | Cerebellar ataxia | NA | no |