Table 1.
Clinical and genetic characteristics of patients with AARS2‐mutations reported in literature
| Case number | Sex | Age at onset (years) | First neurological symptoms | Cerebellar symptoms | Cognitive impairment | Psychiatric symptoms | Pyramidal signs | Ovarian failure | AARS2 mutation | Amino acid change | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | Female | 15 | Gait ataxia, cognitive decline, tremor | + | + | + | − | + | c.149T>G; c.1561C>T | p.Phe50Cys; p.Arg521a | 8 |
| P2 | Male | 7 | Ataxia | + | + | − | + | Male | c.2893G>A; c.1213G>A | p.Gly965Arg; p.Glu405Lys | 8 |
| P3 | Female | 33 | Cognitive decline and depression | + | + | + | + | + | c.1609C>T & c.2350del; c.595C>T | p.Gln537 & p.Glu784Serfs*9; p.Arg199Cys | 8 |
| P4 | Female | 15 | Tremor | + | + | + | + | c.230C>T; c.595C>T | p.Ala77Val; p.Arg199Cys | 8 | |
| P5 | Female | 40 | Cognitive decline and depression | − | + | + | − | + | c.595C>T; c.390_392del | p.Arg199Cys; p.Phe131del | 8 |
| P6 | Female | 22 | Spastic paraparesis and depression | + | − | + | + | + | c.595C>T; c.2611dup | p.Arg199Cys; p.Thr871Asnfs*21 | 8 |
| P7 | Female | 30 | Cognitive decline and psychosis | − | + | + | + | + | c.1145C>A; c.2255 + 1G> A* | p.Thr382Lys | 9 |
| P8 | Male | 27 | Psychosis | + | + | + | + | Male | c.578T>G; c.595C>T | p.Leu193a; p.Arg199Cys | 10 |
| P9 | Female | 40 | Anxiety and cognitive decline | − | + | − | + | + | c.1041‐1G>A*; c.595C>T | p. Arg199Cys | 11 |
| P10 | Male | Late 30s | Cognitive decline | − | + | − | − | Male | c.1188G>A*; c.1709delG | p. Gly570Afs*21 | 11 |
| P11 | Male | Mid 20s | Rapid motor decline | + | + | + | + | Male | c.1188G>A*; c.1709delG | p. Gly570Afs*21 | 11 |
| P12 | Male | 15 | Cognitive decline and psychosis | + | + | + | + | Male | c.892_894del; c.2234_2235 del | p.298_298delGln; p.Ser745Cysfs*60 | 11 |
| P13 | Male | Mid 40s | Right upper limb dystonia | − | + | + | + | Male | c.595C>T (homozygous) | p. Arg199Cys | 11 |
| P14 | Male | 17 | Tremor | + | + | + | + | + | c.2265dupA; c.650C>T | p.Arg756 fs; p.Pro217Leu | 13 |
| P15 | Female | 44 | Gait ataxia and cognitive decline | + | + | − | + | + | c.595C>T; c.390_392del | p.Arg199Cys; p.Phe131del | 14 |
| P16 | Female | 32 | Cognitive decline | − | + | − | − | + | c.595C>T; c.236T>A | p.Arg199Cys; p.Met79Lys | 14 |
| P17 | Female | 23 | Ataxia and spastic gait | + | − | − | + | + | c.595C>T; c.2611_2612 insA | p.Arg199Cys; p.Thr871Asnfs | 14 |
| P18 | Female | 33 | Ovarian failure and cognitive decline | − | + | − | + | + | c.963C>A; c.452T>C | Tyr321*; p.Met151Thr | 12 |
| P19 | Male | 35 | Dystonia | + | + | − | + | Male | c.963C>A; c.452T>C | Tyr321*; p.Met151Thr | 12 |
| P20 | Male | 29 | Axatia | + | + | − | + | Male | c.179C>A; c.1703_1704del | p.Arg199Cys; p.Val730Met | Presented case |