Table 1 List of subjects enrolled in the study
From: TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis
Clinical Diagnosis | OM samples (number) | Age, mean (SD) (y) | Sex (M/F) | Age at onset, mean (SD) (y) | Disease duration, mean (SD) (m) | ALSFRS-R, mean (SD; range) | Progression rate, mean (SD) | Cognitive phenotype (ALScn/ALSimp/FTD) | Onset region (number; spinal/bulbar) |
|---|---|---|---|---|---|---|---|---|---|
Sporadic MND | 65 | 62.9 (10.1) | 48/17 | 61 (10.3) | 28 (27.4) | 39.9 (5.5;19–47) | 1.0 (0.6) | 34/21/10 | 44/21 |
 sALS | 35 | 62.1 (9.9) | 27/8 | 61 (10.3) | 20 (24.7) | 39.6 (6.3;19–47) | 0.8 (0.8) | 22/9/4 | 35/0 |
 bALS | 18 | 63.8 (10.0) | 11/7 | 61 (9.8) | 28 (22.1) | 40.6 (4.0;32–46) | 0.36 (0.3) | 9/6/3 | 0/18 |
 PLS | 10 | 62.9 (10.1) | 9/1 | 59 (10.4) | 47 (27.4) | NA | NA | 3/5/2 | 9/1 |
 FOSMN | 2 | 70.0 (0) | 1/1 | 64 (6.4) | 78 (78.5) | NA | NA | 0/1/1 | 0/2 |
Genetic MND | 21 | 58.9 (10.1) | 10/11 | 55 (10.7) | 46 (34.1) | 38.6 (5.5;18–46) | 0.38 (0.4) | 15/1/2 § | 14/6 |
 C9orf72exp | 6 (1 presymptomatic) | 60.0 (9.8) | 4/2 | 59 (10.2) | 30 (26.4) | 40.2 (5.9;37–44) | 0.4 (0.7) | 4/1/1 | 3/2 |
 TARDBP | 4 | 53.8 (10.2) | 1/3 | 50 (10.4) | 38 (18.8) | 40.5 (4.0;34–46) | 0.25 (0.7) | 4/0/0 | 3/1 |
 SQSTM1 | 3 | 70.0 (10.5) | 1/2 | 66 (10.7) | 51 (20.0) | 39.3 (5.4;35–43) | 0.29 (0.8) | 0/0/1 § | 2/1 |
 C9orf72exp + SQSTM1 | 1 | 57 | 1/0 | 57 | 22 | 18 | 1.36 | 1/0/0 | 1/0 |
 OPTN | 1 | 58 | 1/0 | 53 | 59 | NA | NA | 1/0/0 | 1/0 |
 GLE1 | 1 | 65 | 0/1 | 64 | 7 | 39 | 1.29 | 1/0/0 | 0/1 |
 FUS | 1 | 49 | 1/0 | 47 | 17 | 44 | 0.24 | 1/0/0 | 1/0 |
 SOD1 | 4 | 55 (5.1) | 1/3 | 48 (4.8) | 92 (28.3) | 38.0 (4.0; 36–44) | 0.11 (0.05) | 3/0/0 § | 4/0 |
Other neurodegenerative diseases | 17 | 67.4 (9.0) | 14/3 | NA | NA | NA | NA | NA | NA |
 MSA | 6 | 63.3 (8.1) | 4/2 | NA | NA | NA | NA | NA | NA |
 DLB | 8 | 69.0 (8.7) | 8/0 | NA | NA | NA | NA | NA | NA |
 AD | 3 | 71.0 (11.8) | 2/1 | NA | NA | NA | NA | NA | NA |
CTRLs | 22 | 51.9 (16.8) | 11/11 | NA | NA | NA | NA | NA | NA |
TOTAL | 121 | 61.1 (12.3) | 82/39 | NA | NA | NA | NA | NA | NA |