Table 1. Subject characteristics according to C9ORF72 repeat expansion status and disease group.

The sample median (minimum, 25th percentile, 75th percentile, and maximum) is given for continuous variables. The 15 subjects without a C9ORF72 repeat expansion in the “Other diseases” subgroup comprised 4 patients with FTD, 10 with Alzheimer’s disease, and 1 with primary lateral sclerosis. The 24 subjects with a C9ORF72 repeat expansion in the “Other diseases” subgroup comprised 20 patients with FTD, 2 with Alzheimer’s disease, 1 with dementia with Lewy bodies, and 1 diagnosed with bipolar disease. Information was unavailable regarding age of disease onset [n = 12; 11 non-C9ORF72 repeat expansion carriers (n = 1 with ALS and n = 10 with a disease other than ALS or ALS-FTD) and 1 C9ORF72 repeat expansion carrier with FTD], disease onset to CSF collection (n = 11; 10 non-C9ORF72 repeat expansion carriers with a disease other than ALS or ALS-FTD and 1 C9ORF72 repeat expansion carrier with FTD), and onset site (n = 3; one c9ALS and two c9ALS-FTD). For ALSFRS-R scores, data were missing from 10 ALS or ALS-FTD patients without the C9ORF72 repeat expansion, 19 asymptomatic subjects with the expansion, and 23 patients with c9ALS or c9ALS-FTD. N/A, not applicable.

CharacteristicNon-C9ORF72 repeat expansion carriersC9ORF72 repeat expansion carriers
Healthy controls
(n = 48)
ALS (n = 57)Other diseases
(n = 15)
Asymptomatic
(n = 27)
ALS or ALS-FTD
(n = 83)
Other diseases
(n = 24)
Age at disease
onset (years)
N/A54 (24, 43, 60, 78)62 (39, 51, 74, 76)N/A56 (33, 52, 62, 74)61 (20, 54, 64, 75)
Age at CSF
collection (years)
57 (23, 41, 64, 85)57 (25, 47, 64, 79)60 (51, 53, 64, 77)46 (28, 32, 56, 63)59 (35, 54, 63, 76)63 (33, 57, 67, 77)
Gender (male)17 (35.4%)39 (68.4%)9 (60.0%)8 (29.6%)51 (61.4%)12 (50.0%)
Disease onset to
CSF collection (months)
N/A26 (0, 12, 51, 204)12 (0, 12, 12, 240)N/A24 (0, 12, 31, 132)47 (0, 25, 63, 160)
Onset site
—BulbarN/A11 (19.3%)N/AN/A25 (31.3%)N/A
—LimbN/A45 (78.9%)N/AN/A51 (63.8%)N/A
—OtherN/A1 (1.8%)N/AN/A4 (5.0%)N/A
ALSFRS-R scoreN/A36 (14, 28, 40, 47)N/A48 (40, 45, 48, 48)36 (7, 28, 42, 46)N/A
Poly(GP) (ng/ml)0.0 (0.0, 0.0,
0.0, 0.0)
0.0 (0.0, 0.0,
0.0, 0.1)
0.0 (0.0, 0.0,
0.0, 0.0)
0.5 (0.0, 0.2,
1.0, 4.0)
0.8 (0.0, 0.5,
1.6, 5.2)
1.1 (0.0, 0.4,
1.9, 5.3)