Genetic and clinical characteristics of SIGMAR1-associated neuropathies
| Paper | Christodoulou et al, 20007; present study, 2019 | Li et al, 201518; Lee et al, 201620 | Gregianin et al, 201621 | Almendra et al, 201824 | Nandhagopal et al, 201823 | Horga et al, 201622 | Al-Saif et al, 201117 | Watanabe et al, 201619 |
| Origin | Jordan | China Afghanistan | Italy | Portugal | Oman | France-Britain | Saudi Arabia | Hispanic |
| Mutation | c.500A>T | c.151+1G>T | c.412G>C, c.448G>A | (compound heterozygote) c.561_576del and exon 4 deletion | c.238C>T | c.194T>A | c.304G>C | c.283dupC |
| Protein change | p.Asn167Ile | p.Gly31_Ala50del | p.Glu138Gln, p.Glu150Lys | p.Asp188Profs*69, exon4del | p.Gln80* | p.Leu65Gln | p.Glu102Gln | p.Leu95fs |
| Diagnosis | Jerash dHMN | dHMN | dHMN | dHMN | dHMN | Silver-like syndrome | jALS | jALS |
| Inheritance | AR | AR | AR | AR | AR | AR | AR | AR |
| Number of affected individuals | 30 | 3 (Li et al), 1 (Lee et al) | 2 (c.412G>C) 2 (c.448G>A) | 1 | 3 | 1 | 6 | 1 |
| LL muscle weakness, years | 4–12 | 9–12 | 9–12 | 4 | 5–11 | 3 | 1–2 | 5–6 |
| UL muscle weakness, years | 8–18 | 11–15 | 11–15 | 16 | 10–14 | 12–13 | 9–10 | 9–12 |
| Proximal muscle weakness | – | – | – | – | – | – | + | +Minimally affected |
| LL spasticity | + | – | – | – | + | + | + | + |
| Knee-jerk reflex | Brisk | Brisk, Absent | Brisk | Absent | Brisk | Brisk | Brisk | Brisk |
| Ankle jerk reflex | Absent | Absent | Absent (2), Brisk (2) | Absent | Absent (2), Brisk (1) | Absent | Brisk | Brisk |
| Babinski sign | Present | Present (2), Absent (2) | Present (2), Absent (2) | N/A | Present | Present | N/A | Present |
| Fasciculations | – | – | – | – | – | – | N/A | – |
| Bulbar symptoms | – | – | – | – | – | – | – | – |
| Respiratory symptoms | – | – | – | – | – | – | – | – |
| Sensory abnormalities | – | – | – | – | – | – | – | – |
| Brain MRI | Normal | Normal | Normal | N/A | Normal | Normal | Normal | Normal |
AR, autosomal recessive;jALS, juvenile amyotrophic lateral sclerosis; LL, lower limbs; UL, upper limbs.