Table 1.
Poly Q domain (N = 29) | Poly A domain (N = 2) | Variable region (N = 28) | C3HC4 domain (N = 2) | p Value | |
---|---|---|---|---|---|
Age of onset, years | 9.51 ± 8.14 | 7.75 ± 5.25 | 7.27 ± 8.73 | 3.25 ± 1.75 | 0.06 |
Male sex (n, %) | 6 (46.1%, n = 13) | 1 (50%) | 13 (46.43%) | 1 (50%) | 0.99 |
Ethnicity | |||||
Asian | 1 (3.45%) | 0 | 4 (14.29%) | 0 | 0.43 |
Western | 28 (96.55%) | 2 (100%) | 23 (82.14%) | 2 (100%) | 0.41 |
Unknown | 0 | 0 | 1 (3.57%) | 0 | 0.52 |
Mutation type | |||||
Frameshift | 0 | 2 (100%) | 13 (46.43%) | 2 (100%) | <0.001*** |
Nonsense | 29 (100%) | 0 | 13 (46.43%) | 0 | <0.001*** |
Missense | 0 | 0 | 2 (7.14%) | 0 | 0.33 |
Main clinical features | |||||
Initial global developmental delay | 6 (27.27%, n = 22) | 0 | 11 (42.31%, n = 26) | 1 (50%) | 0.48 |
Motor regression | 5 (22.73%, n = 22) | 2 (100%) | 10 (38.46%, n = 26) | 0 | 0.09 |
Language regression | 2 (10%, n = 20) | 0 | 7 (26.92%, n = 26) | 0 | 0.44 |
Dystonia | 11 (39.29%, n = 28) | 1 (50%) | 8 (34.78%, n = 23) | 0 | 0.82 |
Ataxia | 25 (86.21%) | 1 (50%) | 14 (50%, n = 24) | 1 (50%) | 0.04* |
Pyramidal signs | 16 (55.17%) | 1 (50%) | 12 (50%, n = 24) | 1 (50%) | 0.94 |
Epilepsy | 13 (92.86%, n = 14) | 1 (50%) | 12 (48%, n = 25) | 1 (50%) | 0.008** |
Brain MRI findings | |||||
Normal | 4 (28.57%, n = 14) | 2 (100%) | 11 (52.38%, n = 21) | 1 (50%) | 0.22 |
Cerebral or cerebellar or brainstem atrophy | 5 (35.71%, n = 14) | 0 | 9 (42.86%, n = 21) | 1 (50%) | 0.78 |
Corpus callosum atrophy | 4 (28.57%, n = 14) | 0 | 1 (4.76%, n = 21) | 0 | 0.25 |
p < 0.05;
p < 0.01.
p < 0.001.