Table 1 Genetic and clinical features as provided from the referring physician of the five patients (two females/ three males) with SCA8 repeat expansions
Patient | (CTA/CTG)n allele 1/2 | Symptoms | Age at onset | Family history | |
|---|---|---|---|---|---|
1 | 22 | 129 | Gait ataxia, dysarthria, atrophy of the cerebellum | 19-21 | affected mother |
2 | 26 | 125 | Atrophy of the cerebellum | NA | NA |
3 | 24 | 122 | Gait ataxia, dysarthria, saccadic eye movements | 19-21 | no |
4 | 30 | 116 | Stance and gait ataxia, dysarthria, saccadic eye movements | 45-47 | no |
5 | 25 | 92 | Movement disorder, dementia | 41-43 | no |