Table 2.
Adult-onset leukodystrophy-related AARS2 mutations.
| Protein mutations | Number of patients | Reference | Main symptoms |
|---|---|---|---|
| F50C | 1 | Dallabona (17) | Gait ataxia, tremor, cognitive decline, psychosis |
| P60H | 1 | This study | Consonant dysfunction, slow squint, nystagmus, tremor, walking instability, spasticity, dystonia |
| A77V | 1 | Dallabona (17) | Tremor |
| P131del | 2 | Dallabona (17) | Tremor, depression, cognitive decline |
| L193 | 1 | Szpisjak (22) | Psychosis |
| R199C | 7 | Lakshmanan (15), Dallabona (17), Szpisjak (22), Lynch (23) | Depression, cognitive decline, psychosis, spastic paraparesis with ataxic signs, anxiety, dysarthria, right upper limb dystonia |
| P217L | 1 | Dong (24) | Tremor |
| Q298delG | 2 | Lakshmanan (15), Lynch (23) | Cognitive decline, psychosis |
| Y321 | 1 | Lee (19) | Depression, cognitive deterioration, right hand postural tremor, stooped posture and gait disturbance |
| T382K | 1 | Hamatani (18) | Cognitive decline, psychosis |
| E405K | 1 | Dallabona (17) | Hemiparesis, ataxia |
| R521 | 1 | Dallabona (17) | Gait ataxia, tremor, cognitive decline, psychosis |
| Q537 | 1 | Dallabona (17) | Depression, cognitive decline, psychosis |
| Q568fs | 1 | This study | Consonant dysfunction, slow squint, nystagmus, tremor, walking instability, spasticity, dystonia |
| G570Afs | 2 | Lakshmanan (15), Lynch (23) | Obsessive behavior, hyperphagia, memory impairment |
| V730M | 4 | Dallabona (17) | Depression, cognitive decline, psychosis, spastic paraparesis with ataxic signs |
| S745Cfs | 1 | Lynch (23) | Cognitive decline, psychosis |
| R752fs | 1 | Lynch (23) | Cognitive decline, psychosis |
| R756fs | 1 | Dong (24) | Cognitive decline, psychosis |
| T871Nfs21 | 1 | Dallabona (17) | Spastic paraparesis with ataxic signs |
| Q784Sfs | 1 | Dallabona (17) | Depression, cognitive decline, psychosis |
| G965R | 1 | Dallabona (17) | Hemiparesis, ataxia |
| R963W | 2 | Dallabona (17) Lee (19) | Depression, cognitive deterioration, right hand postural tremor, stooped posture, and gait disturbance |
| M151T | 4 | This study, Lee (19), Sun (25) | Cognitive decline, spastic-ataxic gait, declined memory and calculating ability, bilateral horizontal nystagmus, and hypertonia |
| M268V | 1 | This study | Consonant dysfunction, slow squint, nystagmus, tremor, walking instability, spasticity, dystonia |
| W624X | 3 | This study, Sun (25) | Spastic-ataxic gait, declined memory and calculating ability, bilateral horizontal nystagmus and hypertonia |