Table 1

Demographic and clinical characteristics of patients with ALS/FTD carrying probable or possible pathogenic mutations

Case	Gene	cDNA position	Amino acid change	GnomAD NFE_MAF	SP_MAF	Gender	FH	FTD variant	FTD AAO	ALS SOO	ALS AAO	Additional data/neuropathological findings
1	TBK1	c.228+1G>A	p.K30_E76del	0	0	M	−	bvFTD	64	Limb	64
2	TBK1	c.235_237del	p.T79del	1.49×10^–5	0	M	−	bvFTD	55	Limb	56	FTLD-MND-TDP type B, AGD III
3	TBK1	c.1921_1923del	p.E643del	2.4×10^–5	0	F	−	bvFTD	56	Limb	56
4	TBK1	c.992+4_7del	p.G272_T331del	0	0	F	−	bvFTD	69	Limb	69
5*	TBK1	c.762_763del†	p.N254Kfs*4	0	0	M	−	nfvPPA	53	Limb	49
5*	SQSTM1	c.1175C>T	p.P392L	0.001	0.005
6	SQSTM1	c.1175C>T	p.P392L	0.001	0.005	M	−	bvFTD	67	NA	68	FTLD-MND-TDP type B, hippocampal sclerosis, basal ganglia degeneration, parkinsonism, PDB
7	SQSTM1	c.98C>T	p.A33V	0.001	0	M	−	bvFTD	60	Limb	71	FTLD-MND-TDP type B, hippocampal sclerosis, basal ganglia degeneration, scarce FUS, TAF15 and TNPO1
8	TAF15	c.1168T>A†	p.S390T	0	0	M	−	bvFTD	49	Limb	45	LMN>>UMN, dyskinesia
9	TAF15	c.1384G>A†	p.G462S	9.02×10^–5	0	M	+	bvFTD	66	Limb	67	FTLD-MND-TDP type B, parkinsonism, LMN>>UMN, mild AD changes
10	TARDBP	c.269C>T	p.A90V	0.0005	0	M	+	bvFTD	49	Bulbar	63	MND-TDP stage 4, amygdalar gliosis
11	VCP	c.79A>G	p.I27V	9.47×10^–5	0.001	M	−	bvFTD	80	Limb	81	MND-TDP, mild AD changes, argyrophilic grains, bradykinesia, resting tremor
12	FIG4	c.590G>A†, ‡	p.R197H	0	0	M	−	bvFTD	60	Both	61	MND-TDP+hippocampal sclerosis
13	ERBB4	c.1997T>C†, ‡	p.I666T	1.79×10^–5	0	M	−	bvFTD	38	Bulbar	36

*Double mutation carrier.
†Novel mutations.
‡Possible pathogenic category.
AAO: age at onset; AD, Alzheimer’s disease; AGD: argyrophilic grain disease; ALS, amyotrophic lateral sclerosis; bvFTD, behavioural variant FTD; F, female; FH, family history; FTD, frontotemporal dementia; FTLD: frontotemporal lobar degeneration; GnomAD NFE_MAF, minor allele frequency in the NFE population from the Genome Aggregation Database; LMN, lower motor neuron; M, male; MND, motor neuron disease; NFE, non-Finnish European; nfcPPA, non-fluent variant of PPA; PPA, primary progressive aphasias; PDB, Paget’s disease of bone; SP_MAF, aggregated minor allele frequency from Dopazo et al and the 1000 Genomes Project Consortium Spanish individuals; SOO, site of onset; UMN, upper motor neuron.