Table 3.

Key phenotypic characteristics of long survivors with variants of interest

	FIG4 p.(Asn805Ile) (n = 1)	HNRNPA2B1 5 ‘ UTR c.-5C > T (n = 1)	SETX p.(Lys218Asn) (n = 1)	SOD1 p.(Ile114Thr) (n = 2)	SOD1 p.(Gly38Arg) (n = 1)	SPAST Intronic c.1494-3delT (n = 2)	SQSTM1 p.(Glu280del) (n = 1)	SQSTM1 p.(Ala426Val) (n = 1)	TAF15 p.(Tyr455Cys) (n = 1)	VAPB Intronic c.58 + 5G > A (n = 1)
Sex	Male	Male	Female	Male Male	Male	Male Male	Male	Male	Male	Male
Ethnicity	White Scottish	White Scottish	White Scottish	White Scottish White Other	White Scottish	White Scottish White Other	White Scottish	White Scottish	White Scottish	White Scottish
Age of onset, years	54	45	41	31 48	31	76 65	28	53	49	37
Time to diagnosis, months	30	13	78	46 41	5	11 4	83	66	159	17
Survival from onset, months	175	143	355	199 149	245	164 253	223	216	308	211
Site of onset	Lower limb	Lower limb	Bulbar	Lower limb Lower limb	Upper limb	Lower limb Lower limb	Lower limb	Upper limb	Lower limb	Lower limb
MND classification	ALS	PLS	PLS	ALS ALS	ALS	PLS ALS	ALS	ALS	PLS	PLS
Family history of MND	No	No	No	Yes Yes	Yes	No No	No	No	No	No
Taking riluzole	No	No	No	No Yes	Yes	No Yes	Yes	Yes	No	Yes
Feeding tube	No	Yes	No	No No	No	No No	Yes	Yes	No	No
Non-Invasive/Invasive ventilation	Yes	No	No	Yes Yes	No	No No	Yes	Yes	No	No

ALS amyotrophic lateral sclerosis, PLS primary lateral sclerosis