Table 1.

SQSTM1 mutations present only in patients and associated clinical phenotypes

Mutation	Functional domain	Origin	Gender	Clinical diagnosis	Sub-diagnosisb	Family history	Age at onset (years)	Age at death (years)
FTLD
p.Ala16Vala		Italian	M	FTLD-ALS		U	71	74
p.Asp80Glua	PB1	Italian	F	FTLD	bvFTD	F	71	85
p.Val90Met	PB1	Portuguese	F	FTLD	bvFTD	U	41
p.Arg212Cysa		Austrian	M	FTLD-ALS		F	63	66
p.Gly219Vala		Portuguese	M	FTLD	bvFTD	F	52
p.Ser226Proa	TRAF6	Spanish	M	FTLD	bvFTD	S	61
p.Pro228Leu	TRAF6	German	M	FTLD	bvFTD	S	57
p.Pro232Thra	TRAF6	Portuguese	F	FTLDc	bvFTD	F	55	68
p.Glu280dela	PEST1	Italian	F	FTLD	PSP	F	73
p.Arg321His	LIR	Italian	F	FTLD		U	68
p.Asp329Glya	LIR	Spanish	M	FTLD	bvFTD	U	78	84
p.Pro348Leu	PEST2	Italian	M	FTLD	PNFA	F	74
p.Pro387Leu	UBA	Italian	F	FTLD	PNFA	F	65
p.Pro387Leu	UBA	Italian	M	FTLD	bvFTD	S	66
p.(Glu396*)	UBA	Czech	M	FTLD	bvFTD	S	43	47
p.Thr430Proa	UBA	Portuguese	M	FTLD	bvFTD	S	58	63
ALS
p.Arg107Trpa		Spanish	F	ALS	MND	S	58	62
p.Asp129Asna	ZZ	Flemish	M	ALS		S	62
p.Asp258Asna		German	F	ALS		F	52	62

Functional domains according to [11] (Fig. 1b)

bvFTD behavioral variant frontotemporal dementia, MND motor neuron disease, PSP progressive supranuclear palsy, PNFA progressive non-fluent aphasia, F familial, S sporadic, U family history undocumented

^aIndicates variants not previously associated with ALS, FTLD or PDB [7, 11, 17, 28, 29, 33]. For a complete description of SQSTM1 mutations, see Supplementary table 2

^bClinical subdiagnosis is given where documented

^cAfter revision of the medical records of the mutation carriers, a diagnosis of possible PDB was made in hindsight in this patient