Family | Age at onset (years) | Gender | Ethnical origin | Region of onset | Disease duration (months) | Inheritance | Special clinical features | UMN/LMN signs | Mutation |
1 | 42 | F | Swiss | Leg | 19 | AD | Rapid progression | +/+ | E78insSI (c.240-7T→G) |
2a | 28 | F | Swiss | Leg | 528 | AD | Tongue preserved | +/+ | L144F (TTG→TTT) |
2b | 71 | M | Swiss | Leg | 65 | AD | Tongue preserved | +/+ | L144F (TTG→TTT) |
3 | 43 | F | Balkan | Leg | 55 | AD | Tongue preserved | (+)/+ | L144F (TTG→TTC) |
4a | 70 | F | Swiss | Leg | 46 | AD | Early falls | +/+ | V5L (GTG→TTG) |
4b | 36 | F | Swiss | Leg | >72 | AD | Early falls, foot flexors weaker than extensors | +/+ | V5L (GTG→TTG) |
5 | 76 | M | Swiss/German | Arm | 39 | sALS* | Facial diplegia | (+)/+ | N86S (AAT→AGT) |
6 | 36 | F | German | NA | ≈36 | AD | LMN predominant | −/+ | R115G (CGC→GGC) |
7 | 50 | F | Swiss | Leg | >42 | AR | Bulbar preserved | (+)/+ | D90A(h) (GAC→GCC) |
Comparison of features between different SOD mutations.
↵* Patient's father unknown; ‘tongue preserved’ relates to findings shortly before death.
(+), spread of reflex or preserved reflex in a weak, wasted limb; AD, autosomal dominant inheritance; AR, autosomal recessive inheritance; D90A(h), homozygous mutation; F, female; M, male; NA, no data available; sALS, sporadic amyotrophic lateral sclerosis; UMN/LMN, upper/lower motoneuron.