Table 1 Clinical features and ALS2 mutations reported in patients with infantile-onset ascending spastic paralysis
Patient | Gender | Age at exam (year) | Age at onset (year) | Loss of ambulation (year) | Upper limb involvement | Dysphagia | Dysarthria | Developmental regression | Clonus | Ocular gaze paralysis | Cognitive impairment | Abnormal Brain MRI | Country of origin | Mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | boy | 14 | 1.2 | 2 | + | NA | + | + | + | – | – | + | Kuwait | c.1425_1426delAG(p.E476Gfs*71) [8, 15] (Homozygous) |
2 | boy | 6 | 0.9 | NW | + | NA | + | + | + | – | – | + | ||
3 | boy | 2.5 | 0.8 | NW | + | NA | + | + | – | – | – | NA | ||
4 | boy | 36 | 1 | NW | + | + | + | + | + | – | – | + | Algeria | (Homozygous) |
5 | girl | 31 | 1 | NW | + | + | + | + | + | – | – | NA | ||
6 | boy | 24 | 1 | NW | + | + | + | + | + | – | – | NA | ||
7 | girl | 18 | 1.5 | 4 | + | + | + | + | + |  | – | + | France | c.1472_1481delGTTTCCCCCA(p.V491Gfs*3) [16, 17] (Homozygous) |
8 | girl | 23 | 1.3 | 5 | + | + | + | + | + | + | – | + | Italy | c.2537_2538delAT(p.N846Ifs*13) [16, 17] (Homozygous) |
9 | boy | 20 | 1.5 | 4 | + | + | + | + | + | + | – | + | Italy | c.1007_1008delTA(p.I336Tfs*5) [16, 17] (Homozygous) |
10 | girl | 12 | 1.5 | >1.5 | + | NA | + | + | NA | + | NA | NA | Pakistan | c.4721delT(p.V1574Afs*44) [18] (Homozygous) |
11 | girl | 9 | 1 | NW | + | + | + | + | + | NA | NA | NA | Buchari Jewish- Israel | c.2992C > T(p.R998*) [19] (Homozygous) |
12 | girl | 6 | 1.2 | NW | + | + | + | + | + | NA | – | – | ||
13 | girl | 22 | <1 | NW | + | – | + | NA | NA | NA | NA | NA | Turkey | c.470G > A(p.C157Y) [20] (Homozygous) |
14 | girl | 20 | <1 | NW | + | + | + | NA | NA | NA | – | + | ||
15 | girl | 13 | 0.7 | NW | + | + | + | + | + | NA | – | – | Netherlands | c.2143C > T(p.Q715*) [21] (Homozygous) |
16 | boy | 8 | 1.5 | NW | + | + | + | + | + | NA | – | – | ||
17 | girl | 11 | 0.8 | NW | + | + | + | + | + | NA | + | – | Hungary | c.1821_1826insCAGTG(p.E609Afs*9); c.3529G > T(p.G1177*) [22] (compound heterozygous) |
18 | girl | 6 | <1 | NW | – | – | + | + | + | NA | + | – | ||
19 | boy | 7 | 1.5 | NW | + | NA | + | + | + | – | + | + | Germany | c.1999–2 A > T(p.E724fs*32) [23] (Homozygous) |
20 | boy | 17 | 1 | NW | + | + | + | + | + | – | – | + | Italy | c.3836 + 1G > T(p.K1234 fs*3) [24] (Homozygous) |
21 | boy | 16 | 3 | NW | + | + | + | + | + | + | – | – | Portugal | c.1425_1428del (p.G477Afs*19); c.145G > A(p.G49R) [25] (compound heterozygous) |
22 | girl | 8 | <2 | 4 | + | + | + | + | + | NA | – | + | Saudi Arabia | c.2761C > T(p.R921*) [26] (Homozygous) |
23 | boy | 4 | 2 | 4 | NA | + | + | + | + | NA | – | NA | ||
24 | girl | 19 | 2 | + | + | + | + | + | + | NA | NA | NA | Turkey | c.2351 + 2C > A [27] (Homozygous) |
25 | girl | 12 | 0.5 | NW | + | + | + | + | + | NA | NA | NA | ||
26 | boy | 6 | 1 | NW | + | + | + | + | + | – | – | + | ||
27 | girl | 4.5 | 1.5 | NW | + | + | + | + | + | – | – | + | ||
28 | boy | 15 | <2 | NW | + | NA | + | + | + | NA | + | NA | Pakistan | c.2998delA(p.I1000*) [28] (Homozygous) |
29 | boy | 13 | <2 | NW | + | NA | + | + | + | NA | + | NA | ||
30 | boy | 16 | <2 | NW | + | NA | + | + | + | NA | + | – | ||
31 | boy | 7 | <2 | NW | + | NA | + | + | + | NA | + | NA | ||
32 | girl | 18 | <2 | NW | + | NA | + | + | + | NA | + | NA | ||
33 | boy | 6 | <2 | NW | + | NA | + | + | + | NA | + | NA | ||
34 | boy | NA | <2 | NW | + | + | + | + | + | – | – | NA | Pakistan | c.194 T > C(p.F65S) [28] (Homozygous) |
35 | boy | 13 | <2 | NW | + | + | + | + | + | – | – | NA | ||
36 | boy | NA | <2 | NW | + | + | + | + | + | – | – | NA | ||
37 | boy | 22 | <2 | NW | + | + | + | + | + | – | – | – | ||
38 | boy | 26 | <2 | NW | + | + | + | + | + | – | – | NA | ||
39 | boy | 7 | <2 | NW | – | – | + | + | + | – | – | – | Pakistan | c.1918C > T(p.R640*) [29] (Homozygous) |
40 | girl | 6 | <2 | NW | – | – | + | + | + | – | – | NA | ||
41 | girl | 14 | 2 | 4 | + | NA | + | + | + | NA | – | – | Spanish | c.2944delC (p.Gln982Serfs*19; c.2110C > T (p.Arg704Ter) [30] (compound heterozygous) |
42 | girl | NA | 2 | NA | NA | NA | NA | + | + | NA | NA | NA | c.1918C > T (p.Arg640Ter); c.145G > A (p.Gly49Arg) [30] (compound heterozygous) | |
43 | girl | 5 | 1.5 | NW | + | – | + | + | + | – | - | – | Iran | c.1640 + 1G > A [31] (Homozygous) |
44 | boy | 13 | 1 | NW | + | + | + | + | – | – | – | – | ||
45 | boy | 7 | 1.5 | NW | + | + | + | + | + | – | – | – | ||
46 | boy | 19 | 1 | 2 | + | + | + | + | + | – | + | + | India | c.3692_3693del(p.Leu1231Glnfs*15) [32] (Homozygous) |
Present study | girl | 11 | <2 | 4 | – | + | – | + | + | – | – | – | China | c.1815G > T (p.Lys605Asn) (Homozygous) |
boy | 5.6 | <2 | 3.5 | – | + | – | + | + | – | – | – | |||
rate | Boy:girl = 1:0.74 | 13.3 ± 7.62 | 1.53 ± 0.53 | 0.81 ± 1.57 | 89.13% | 85.29% | 95.65% | 100% | 95.45% | 14.81% | 25.00% | 46.43% |  | LoF variants: missense 22:4 |