Table 3 Clinical features of mt-aaRS-related leukodystrophies
| LBSL (n = 128) % of cases reported | LTBL (n = 21) % of cases reported | AARS2 (n = 16) % of cases reported | |
|---|---|---|---|
| Sex (male) | 45 | 62 | 56 |
| Cognitive impairment or learning problems | 30 | 100 | 94 |
| Motor or gait impairment | 94 | 100 | 88 |
| Seizures | 7 | 43 | 8 |
| Psychiatric/behavior problems | Not reported | n/a | 93 |
| Incontinence | 4 | n/a | 0 |
| Sensory changes | 67 | Not reported | 13 |
| Ovarian failure (female) | 0 | n/a | 100 |
| Cardiac disease | 0 | 0 | 6 |
| Visual/auditory impairment | 5 | 14 | 6 |