Table 1

Summary of clinical features of the 46 patients with ALS/FTD

CaseMutated geneDiagnosisa.o.First symptomd.d.c.i.Sexp.m.
1C9orf72HREALS64Hand25NoM1.5
2C9orf72HREfFTD60Disinhibition168YesM1
3C9orf72HREfALS59Hand36NoM4
4C9orf72HREfALS-FTD51Disinhibition43YesM2.5
5C9orf72HREsPBP69Bulbar21NoM3
6C9orf72HREALS63Leg32NoM1.5
7C9orf72HREfALS58Leg18NoM3
8C9orf72HREfALS49Arm36NoM1
9C9orf72HREfALS51Arm130NoM2
10C9orf72HREfALS66Arm29NoM2
11C9orf72HREPBP+FTD76Bulbar60YesF1.5
12C9orf72HREfALS53Leg28NoF0.5
13C9orf72HREsPBP72Bulbar35YesF1
14C9orf72HREfALS +FTD67Leg35YesM1.5
15C9orf72HREfALS54Arm12NoF2
16C9orf72HRE+KIF5AfFTD60Disinhibition133YesM3
17C9orf72HRE+KIF5AfALS63Leg30NoF2
18C9orf72HRE+KIF5AALS44Leg65n.a.M0.5
19KIF5AALS61Arm13NoF1.5
20KIF5A homozygoussALS61Leg61NoF1
21KIF5APBP67Bulbar27NoF1
22KIF5AALS67Thoracic17NoM1
23KIF5APMA68Arm63n.a.F1.5
24KIF5APBP65Bulbar13NoM1.5
25NEK1 R812XfALS75Hand38SlightF1.1
26VAPB S160delSsPBP55Bulbar43YesM0.5
27FUS R495XfPBP16Bulbar10NoF4
28FUS Q23LsPBP35Bulbar175YesM2.5
29ALSIN+KIF5AsALS50Legs224YesM2
30SOD1 V5MfALS71Leg40NoM2.2
31SOD1 A4V+KIF5AfALS73Arm10YesF1.9
32SOD1 G127XfALS72Thoracic24NoM1.1
33SOD1 G127XfALS53Thoracic6NoM1.5
34SOD1 G127XfALS59Arm32NoFn.a.
35SOD1 G114AfALS38Arm36NoM1.5
36SOD1 G114AfALS29Leg14YesF4
37SOD1 D76YfALS49Leg204NoMn.a.
38SOD1 D83GfALS49Leg37NoF2
39SOD1 D101GfPMA48Arm6n.a.Mn.a.
40SOD1 L144FfALS71Hand65NoM0.2
41SOD1 D90AfALS31Leg265NoM2
42SOD1 D90AfALS58Leg101NoM2
43SOD1 D90AfALS48Leg316NoM1.5
44SOD1 D90AfALS53Leg131NoF2.5
45SOD1 D90AfALS56Leg174NoM1.5
46SOD1 D90AfALS38Leg60NoF2
  • Cases nr 20, 29 and 41—46 were homozygous, all othersheterozygous for the respective genes.

  • ALS, amyotrophic lateral sclerosis; a.o, age at onset (years); c.i., cognitive impairment; d.d., disease duration (months); fFTD, familial frontotemporal dementia; F/M, female/male; p.m, postmortem time (days).