Table 2 Comparison of clinical features between the PKD patients with and without PRRT2 mutations
patients with PRRT2 mutations | patients without PRRT2 mutations | p | |
|---|---|---|---|
No. of subjects | 5 | 15 | |
Male(%) | 4(80%) | 13(86.7%) | 1.000 |
Age at onset (years) | 0.502 | ||
Mean (SD) | 7.1(3) | 8.4(3.7) | |
Median | 7 | 9 | |
Main phenotype, n | 0.338 | ||
Choreoathetosis | 2 | 2 | |
Dystonia | 1 | 9 | |
Mixed | 2 | 4 | |
Laterality of dyskinesia | 0.530 | ||
Unilateral | 0 | 4 | |
Biateral | 5 | 11 | |
Involved limb | 0.805 | ||
Upper limbs | 0 | 3 | |
Lower limbs | 2 | 6 | |
Both | 3 | 6 | |
Frequency of attack/day, n | 0.805 | ||
< 5 | 2 | 6 | |
5–10 | 3 | 6 | |
> 10 | 0 | 3 | |
Comorbidity | 3 | 1 | 0.032 |