Table 1

Patient demographic information

	C9orf72 expansion positive	C9orf72 expansion negative	p Value
N (M/F)	64 (39M/25F)	79 (43M/36F)	0.435
Clinical phenotype N (%)	ALS 31 (48.4%); ALS 30, ALS-MCI 1	ALS 36 (45.6%); ALS 35, ALS-MCI 1	0.542
	FTD 22 (34.4%); bvFTD 17, svPPA 1, naPPA 4	FTD 32 (40.5%); bvFTD 23, svPPA 7, CBS 2
	ALS-FTD 9 (14.1%); ALS-bvFTD 9	ALS-FTD 10 (12.7%); ALS-bvFTD 9, ALS-naPPA 1
	AD 2 (3.1%)*; AD-probable 2	AD 1 (1.3%)*; lvPPA 1
Family history:
Goldman score N (%)
1	10/62(16.1%)‡	5/72 (6.9%)§	0.088
2	8/62 (12.9%)	5/72 (6.9%)
3	10/62 (16.1%)	7/72 (9.7%)
3.5	4/62 (6.5%)	11/72 (15.3%)
4	30/62 (48.4%)	44/72 (61.1%)
Mean (SEM) age of onset, years
Total	55.8 (1.0)	58.8 (1.1)	0.047
ALS	55.1 (1.7)	60.3 (1.9)	0.044
FTLD	56.4 (1.2)	57.4 (1.2)	0.533
Mean (SEM)† age at death, years
Total	60.1 (1.5) n=43	65.3 (1.4) n=49	0.014
ALS	58.0 (1.9) n=24	66.3 (1.9) n=29	0.003
FTLD	62.9 (2.3) n=19	63.9 (2.1) n=20	0.758
Mean (SEM)† disease duration, years
Total	4.0 (0.4) n=43	4.6 (0.5) n=49	0.302
ALS	2.6 (0.3) n=24	3.8 (0.4) n=29	0.035
FTLD	5.7 (0.8) n=19	5.8 (0.9) n=20	0.897

*All AD clinical phenotype cases were pathologically confirmed FTLD with TAR DNA-binding protein 43 (TDP-43) inclusions (FTLD-TDP).
Bold values represent significance (p<0.05).
†Analysis performed on subset of patients who were deceased.
‡Positive family history data from two pairs of related individuals were omitted due to redundancy.
§Family history data from seven C9N GRN mutations cases were removed from the analysis.
AD, Alzheimer's disease; ALS, amyotrophic lateral sclerosis; ALS-MCI, ALS mild cognitive impairment; CBS, corticobasal syndrome; FTD, frontotemporal dementia; FTLD, frontotemporal lobar degeneration; naPPA, non-fluent/agrammatic variant PPA; PPA, primary progressive aphasia; svPPA, semantic variant PPA.