Table 1.

Subjects demographic and clinical characterization

	ALS gene carriers n = 48	Healthy controls n = 54	p	C9orf72 carriers n = 22	SOD1 carriers n = 17	p
Gender/male:female	20:28	23:31	1a	5:17	11:6	0.12/0.16b
Age/years	46, (37–52), 19–76	48, (34–60), 14–77	0.45c	47, (39–52), 19–67	42, (36–55), 22–69	0.18d
ECAS total	113, (100–121), 58–129	–	–	114, (111–122), 72–129	110, (100–121), 58–128	0.35c
ECAS verbal memory	18, (15–20), 3–22	–	–	18, (17–19), 6–22	17, (15–20), 6–21	0.54c
ECAS visuospatial function	12, (12–12), 8–12	–	–	12, (11–12), 8–12	12, (12–12), 11–12	0.08c
ECAS language	27, (23–28), 13–28	–	–	27, (23–28), 17–28	24, (15–27), 13–28	0.052c
ECAS verbal fluency	20, (16–22), 10–24	–	–	20, (18–22), 10–24	19, (16–22), 10–22	0.36c
ECAS executive function	39, (32–43), 17–46	–	–	40, (35–43), 25–46	39, (35–42), 17–46	0.70c

Data shown as median (interquartile range), minimum–maximum

^aFisher’s exact test refers to comparison between all gene mutation carriers and healthy controls

^bFisher’s exact test refers to comparison between C9orf72 carriers and healthy controls and SOD1 carriers and healthy controls

^cMann–Whitney U test refers to comparison between all ALS gene carriers and healthy control or between C9orf72 and SOD1 carriers

^dKruskal–Wallis analysis of variances on ranks (ANOVA) between healthy controls, C9orf72 carriers and SOD1 carriers