Table 2

Immunohistochemical results of staining for misfolded SOD1 using the misSOD1 peptide antibodies: 131–153 Ra-ab (cases #1–31, #35–56) and G127X Ra-ab (cases #32–34)

CaseMutated geneSpinal cordMedulla oblongataMotor cortexFrontal lobeCerebellum
NCIGINCIGINCIGINCIGINCIGI
1C9orf72HRE+++++++++++++++++++++
2C9orf72HRE+++++n.a.n.a.++
3C9orf72HRE++++n.a.n.a.
4C9orf72HRE+++++++++++++++++++++
5C9orf72HRE++++++++++++++++++++++++
6C9orf72HRE+++++++++n.a.n.a.n.a.n.a.n.a.n.a.
7C9orf72HRE++++++++++++++++
8C9orf72HRE++++++++n.a.n.a.+++n.a.n.a.
9C9orf72HRE++++n.a.n.a.n.a.n.a.n.a.n.a.+
10C9orf72HRE+++++n.a.n.a.+++++++n.a.n.a.
11C9orf72HRE+++++n.a.n.a.++++++++n.a.n.a.
12C9orf72HRE++++n.a.n.a.+++++n.a.n.a.
13C9orf72HRE++++++++++++++
14C9orf72HRE++++++++++++
15C9orf72HRE++++++++++++++
16C9orf72+KIF5A++++++++++++++++++++++++++
17C9orf72+KIF5A++++n.a.n.a.n.a.n.a.++++++
18C9orf72+KIF5A++++n.a.n.a.++++++n.a.n.a.
19KIF5A++
20KIF5A homozyg++++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
21KIF5A+++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
22KIF5A+++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
23KIF5A+++++++++++
24KIF5A++++n.a.n.a.++++
25NEK1 R812X+++++++++++++++++++n.a.n.a.
26VAPB S160delS++++++++++++++++++++++
27FUS R495X+++++++++++
28FUS Q23L++++++n.a.n.a.++++
29ALSIN+KIF5A++++++++++++++++++++++
30SOD1 V5M+++n.a.n.a.+n.a.n.a.
31SOD1 A4V+KIF5A+++++++++++
32SOD1 G127X+++++++++++++
33SOD1 G127X++++n.a.n.a.+
34SOD1 G127X++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
35SOD1 G114A++n.a.n.a.n.a.n.a.
36SOD1 G114A++++++++++++
37SOD1 D76Y++++++++
38SOD1 D83G+n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
39SOD1 D101G++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
40SOD1 L144F+++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
41SOD1 D90A+++++++++++++++
42SOD1 D90A+++++++
43SOD1 D90A++++++++++
44SOD1 D90A+++++++++++++++
45SOD1 D90A+++++++++++n.a.n.a.+
46SOD1 D90A++++n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
47N.D. Control
48N.D. Control+
49N.D. Control+
50N.D. Control+++++++++++
51N.D. Control
52N.D. Control+n.a.n.a.n.a.n.a.n.a.n.a.
53N.D. Controln.a.n.a.
54N.D. Controln.a.n.a.n.a.n.a.n.a.n.a.
55N.D. Controln.a.n.a.n.a.n.a.n.a.n.a.
56N.D. Controln.a.n.a.n.a.n.a.n.a.n.a.
  • Rating for misSOD1 inclusions: – no inclusion, + <25% of neurons had inclusions, ++ 25%–75% of neurons had inclusions, +++ >75% of neurons had inclusions.

  • GI, glial inclusion; n.a., not available; NCI, neuronal inclusions; N.D. Control, neurodegenerative control.