High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

Table 3

Clinical characteristics of the SALS patients having SOD1 mutations.

Amino acid change	Sequence change	No. of pt.	Onset age	Onset symptom	Disease course/Disease duration	Author/Reference
K3E	AAG > GAG	1	52	Right leg weakness	Moderate, 6y	This article
C6Y	TGC > TAC	1	34	Right leg weakness	Moderate, 3y	This article
V14G	GTG > GGG	1	39	Both legs fatigue	ND, 16m~	Andersen et al. [16]
G16S	GGC > AGC	1	18	Hand paresis	Rapid, 1y	Kawamata et al. [27]
N19S	AAT > AGT	2	32; 41	Both legs weakness; Left arm weakness	Moderate, 36m; ND	Mayeux et al. [28]
		1	77	Hand paresis	Rapid, 15m	Chiò et al. [6]
E21K	GAG > AAG	1	ND	ND	ND	Jones et al. [2]
Q22H	CAG > CAC	1	46	Left leg weakness	Slow, 8y	This article
N65S	AAT > AGT	1	44	Left leg weakness	Slow, 14y	García-Redondo et al. [19]
		1	40	Drop foot	Slow, 11y	Corrado et al. [5]
G72S	GGT > AGT	1	29	Left leg weakness	Rapid, 15m	Shaw et al. [18]
H80A	CAT > CGT	1	24	Left leg weakness	Rapid, 18m	Alexander et al. [23]
G93S	GGT > AGT	3	44; 55; 64	Both legs weakness; Left leg weakness; Right leg weakness	ND, 6y~; Slow, 8y~; Slow, 12y~	This article
A95T	GCC > ACC	1	26	Both legs weakness	Slow	Gellera et al. [22]
		1	45	Left drop foot	Slow, 20y	Corrado et al. [5]
D101N	GAT > AAT	1	53	ND	ND	Jones et al. [14]
V118 KTGPX	GTG > AAAACTG	1	34	ND	Rapid, 16m	Jackson et al. [17]
E133ΔE	GAA del GAA	1	54	Left leg weakness	Moderate, 4y	Chiò et al. [6]
S134T	AGT > ACT	1	62	Both legs weakness	Slow, 7y	This article
K136X	AAG > TAG	1	45	Left leg weakness	Rapid,12m	Corrado et al. [5]
N139H	AAG > CAC	1	53	ND	ND	Gamez et al. [4]
N139N	AAC > AAT	1	33	ND	Moderate, 3y	Aguirre et al. [3]
A140A	GCT > GCA	2	52; ND	Bulbar palsy; Limb weakness	Rapid, 22m; Slow	Gamez et al. [4]
Total/Average	20	27	43.8	21 Extremity	7 Rapid
				1 Bulbar	5 Moderate
				5 No data	9 Slow

ND: no data, y: year or years, m: month or months, and y~ or m~: alive at the reported time.
Age: under forty (bold) and over fifty-five (underlined).
Disease course (until invasive ventilation support): ~2 years, rapid; 3–6 years, moderate; 7~ years, slow.