Table 3.
Comparison of the clinical symptoms and neuroimaging presentations between the cases with point mutations and frameshift mutations
| Point mutation (n = 9) | Frameshift mutation (n = 7) | χ2 | p | |
|---|---|---|---|---|
| psychiatric symptom (+) | 2 (22.2) | 4 (57.1) | 2.05 | 0.15 |
| psychiatric symptom (—) | 7 (77.8) | 3 (42.9) | ||
| cognitive impairment(+) | 8 (88.9) | 5 (71.4) | 0.79 | 0.38 |
| cognitive impairment(—) | 1 (11.1) | 2 (28.6) | ||
| epilepsy(+) | 3 (33.3) | 3 (42.9) | 0.15 | 0.70 |
| epilepsy(—) | 6 (66.7) | 4 (57.1) | ||
| Peripheral nerve(+) | 4 (44.4) | 1 (14.3) | 1.67 | 0.20 |
| Peripheral nerve(—) | 5 (55.6) | 6 (85.7) | ||
| optic nerve damage(+) | 1 (11.1) | 3 (42.9) | 2.12 | 0.15 |
| optic nerve damage(—) | 8 (88.9) | 4 (57.1) | ||
| white matter lesions(+) | 3 (33.3) | 1 (14.3) | 0.76 | 0.38 |
| white matter lesions(—) | 6 (66.7) | 6 (85.7) | ||
| cerebral atrophy(+) | 6 (66.7) | 5 (71.4) | 0.04 | 0.84 |
| cerebral atrophy(—) | 3 (33.3) | 2 (28.6) | ||
| spinal cord lesions(+) | 1 (11.1) | 0 (0.0) | 0.83 | 0.36 |
| spinal cord lesions(—) | 8 (88.9) | 7 (100.0) | ||
| cerebellum lesions(+) | 1 (11.1) | 1 (14.3) | 0.04 | 0.85 |
| cerebellum lesions(—) | 8 (88.9) | 6 (85.7) |