Table 1.
Review of studies reporting CHCHD10 mutations
| Bannwarth et al., 2014 | Chaussenot et al., 2014 | Müller et al., 2014 | Johnson et al., 2014 | Ajroud-Driss et al., 2015 | Ronchi et al., 2015 | Kurzwelly et al., 2015 | |
|---|---|---|---|---|---|---|---|
| Patients with CHCHD10 mutations (n) | 8 | 3 | 5 | 6 | 10 | 3 | 4 |
| Families (n) | 1 | 3 | 3 | 3 | 1 | 3 | 1 |
| FTD | 7/8 (87.5%) | 3/3 (100%) | – | – | – | – | – |
| MND onset/predominance | 6/8 (75%) | 3/3 (100%) | 5/5 (100%) | 6/6 (100%) | – | 3/3 (100%) | 4/4 (100%) |
| Pseudobulbar | Pseudobulbar | Upper limbs (4/5) | ? | Upper limbs (1/3) | Upper limbs | ||
| Cerebellar signs | Ataxia 5/8 (62.5%) | – | – | – | – | – | Oculomotor signs 1/4 (25%) |
| Parkinsonism | – | 1/3 (33.3%) | – | – | – | – | – |
| Other symptoms | Ptosis, myopathy, deafness | Deafness | – | – | Myopathy, short stature | – | – |
| Age at onset (average) | 49-65y | 59-67 y | 35-73 y | ? | First decade | 25-75 y | 41-73 y |
| (55.5) | (61.6) | (46.7) | (?) | (?) | (53) | (59.5) | |
| Mean disease duration (min-max) | >10 y | ? | 10.7 y | ? | >30 y | ? | 6.3 y |
| (1-27 y) | (4-8 y) | (6-17 y) | (?) | (?) | (2-8 y) | (2-15 y) | |
| Muscle biopsy (patients, n) | RRF, COX-(8/8) | ND | ND | ND | RRF, lipid accumulation | RRF, COX-(1/3) | ND |
| Penetrance | Complete | Insufficient information | Incomplete | ? | Complete | NA | Complete |
| Mutations (families, n) | p.Ser59Leu (1/1) | p.Ser59Leu (1/3) | p.Arg15Leu (2/3) | p.Arg15Leu (3/3) | p.Arg15Ser / p.Gly58Arg in cis (1/1) | p.Pro80Leu (2/3) | p.Arg15Leu (1/1) |
| p.Pro34Ser (2/3) | p.Gly66Val (1/3) | p.Pro34Ser (1/3) | |||||
| Frequency of patients with CHCHD10 mutations in the studied disease cohorts | NA | 3/115 FTD-ALS patients (2.6%) | 3/128 patients with familial ALS (2.3%) | 3/85 patients with familial ALS (3,5%) | NA | 3/224 patients with sporadic ALS (1.3%) | NA |
MND = motor neuron disease; ? = unknown; ND = not done; NA = not applicable; RRF = ragged-red fibres.