Table 1

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

Case	Mutated gene	Diagnosis	a.o.	First symptom	d.d.	c.i.	Sex	p.m.
1	C9orf72HRE	ALS	64	Hand	25	No	M	1.5
2	C9orf72HRE	fFTD	60	Disinhibition	168	Yes	M	1
3	C9orf72HRE	fALS	59	Hand	36	No	M	4
4	C9orf72HRE	fALS-FTD	51	Disinhibition	43	Yes	M	2.5
5	C9orf72HRE	sPBP	69	Bulbar	21	No	M	3
6	C9orf72HRE	ALS	63	Leg	32	No	M	1.5
7	C9orf72HRE	fALS	58	Leg	18	No	M	3
8	C9orf72HRE	fALS	49	Arm	36	No	M	1
9	C9orf72HRE	fALS	51	Arm	130	No	M	2
10	C9orf72HRE	fALS	66	Arm	29	No	M	2
11	C9orf72HRE	PBP+FTD	76	Bulbar	60	Yes	F	1.5
12	C9orf72HRE	fALS	53	Leg	28	No	F	0.5
13	C9orf72HRE	sPBP	72	Bulbar	35	Yes	F	1
14	C9orf72HRE	fALS +FTD	67	Leg	35	Yes	M	1.5
15	C9orf72HRE	fALS	54	Arm	12	No	F	2
16	C9orf72HRE+KIF5A	fFTD	60	Disinhibition	133	Yes	M	3
17	C9orf72HRE+KIF5A	fALS	63	Leg	30	No	F	2
18	C9orf72HRE+KIF5A	ALS	44	Leg	65	n.a.	M	0.5
19	KIF5A	ALS	61	Arm	13	No	F	1.5
20	KIF5A homozygous	sALS	61	Leg	61	No	F	1
21	KIF5A	PBP	67	Bulbar	27	No	F	1
22	KIF5A	ALS	67	Thoracic	17	No	M	1
23	KIF5A	PMA	68	Arm	63	n.a.	F	1.5
24	KIF5A	PBP	65	Bulbar	13	No	M	1.5
25	NEK1 R812X	fALS	75	Hand	38	Slight	F	1.1
26	VAPB S160delS	sPBP	55	Bulbar	43	Yes	M	0.5
27	FUS R495X	fPBP	16	Bulbar	10	No	F	4
28	FUS Q23L	sPBP	35	Bulbar	175	Yes	M	2.5
29	ALSIN+KIF5A	sALS	50	Legs	224	Yes	M	2
30	SOD1 V5M	fALS	71	Leg	40	No	M	2.2
31	SOD1 A4V+KIF5A	fALS	73	Arm	10	Yes	F	1.9
32	SOD1 G127X	fALS	72	Thoracic	24	No	M	1.1
33	SOD1 G127X	fALS	53	Thoracic	6	No	M	1.5
34	SOD1 G127X	fALS	59	Arm	32	No	F	n.a.
35	SOD1 G114A	fALS	38	Arm	36	No	M	1.5
36	SOD1 G114A	fALS	29	Leg	14	Yes	F	4
37	SOD1 D76Y	fALS	49	Leg	204	No	M	n.a.
38	SOD1 D83G	fALS	49	Leg	37	No	F	2
39	SOD1 D101G	fPMA	48	Arm	6	n.a.	M	n.a.
40	SOD1 L144F	fALS	71	Hand	65	No	M	0.2
41	SOD1 D90A	fALS	31	Leg	265	No	M	2
42	SOD1 D90A	fALS	58	Leg	101	No	M	2
43	SOD1 D90A	fALS	48	Leg	316	No	M	1.5
44	SOD1 D90A	fALS	53	Leg	131	No	F	2.5
45	SOD1 D90A	fALS	56	Leg	174	No	M	1.5
46	SOD1 D90A	fALS	38	Leg	60	No	F	2

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).