Table 2.

Review of L144S SOD1 cases reported in the literature.

References	Population	Gender	Number of L144S SOD1 cases/Type of mutation (if specified)	Age of onset	Site of onset	Clinical presentation	Survival (years)
Nel et al. (10)	South African	N/A	(n = 1)	N/A	N/A	ALS	N/A
Gagliardi et al. (11)	Iranian		1 FALS family (n = 3)			ALS
		F	Homozygous	31	Lower limb	Paresthesia of the toes, followed by painful paresis of upper and lower limbs, dysarthria, dysphagia	2
		M	Homozygous	18	Lower limb	Lower limb paresis, followed by upper limb paresis, dysphagia, respiratory failure	9
		F	Heterozygous	64	Lower limb	Asymmetric-onset, proximal paraparesis with UMN signs predominance, followed with ataxia and numbness of the lower limbs	1+
Chen et al. (12)	Chinese		1 FALS (n = 1), 1 SALS
		F	Familial	50	Lower limb	LMN-dominant ALS of symmetric onset	2.6+
		F	Sporadic	48	Lower limb	Classic ALS of asymmetric onset	3.8+
Kuzma-Kozakiewicz et al. (9)	Polish	79% F, 21% M	5 FALS families (n = 17), 2 SALS	39.8 ± 11.0 (mean±SD) (n = 9)	Lower limb (n = 16)	50% classic ALS, 50% PMA (n = 8)	10.34 ± 5.77 (mean±SD) (n = 14)
Chadi et al. (13)	Brazilian		3 FALS families (n = 3)
		F		31	Upper limb	UMN-dominant ALS	1+
		M		40	Lower limb	UMN-dominant ALS	25+
		F		22	Lower limb	UMN-dominant ALS	5+
Alavi et al. (14)	Iranian		1 FALS family (n = 2), 1 SALS
		M	Heterozygous, familial	28	Lower limb	ALS	11+
		F	Heterozygous, familial	27	Lower limb	ALS	8+
		M	Heterozygous, sporadic	45	Lower limb	ALS	11+
Cudkowicz et al. (15)	US	N/A	1 FALS family (n = 2)	42.5 ± 10.6 (mean±SD)	N/A	ALS	12.3 ± 3.7 (mean±SD)
Sapp et al. (16)	US		1 FALS family (n = 2)	42.5 (n = 2)
		N/A				ALS	9
		N/A				ALS	13+