Plasma NfH levels and characteristics of patients with ALS and controls in the cross-sectional study
| Groups | Patient number | Age at baseline sampling (years), mean±SEM (1st quartile, median, 3rd quartile) | Gender F/M | Ethnicity, non-Caucasian (%) | Genetics, C9orf72 (+) case number | Age of onset (years), mean±SEM (1st quartile, median, 3rd quartile) | Site of onset, bulbar/limb/both | ALSFRS_R score at baseline sampling, mean±SEM (1st quartile, median, 3rd quartile) | Progression rate at sampling, mean±SEM (1st quartile, median, 3rd quartile) |
|---|---|---|---|---|---|---|---|---|---|
| ALS* | 136 | 63.7±1.0 (57.7, 65.1, 70.6) | 48/88 | 6.62 | 7 | 60.9±1.1 (53.9, 63.8, 68.2) | 29/104/3 | 35.3±0.7 (29.0, 37.0,42.0) | 0.68±0.06 (0.23, 0.51, 0.92) |
| All controls† | 104 | 57.4±1.2 (50.1, 59.1, 64.8) | 60/44 | 1.92 | |||||
| HC | 51 | 55.3±1.8 (45.5, 57.9, 62.7) | 38/13 | 0 | |||||
| NC | 53 | 59.4±1.7 (51.4, 60.3, 67.3) | 22/31 | 3.77 | |||||
*Patients with ALS include 62 individuals sampled only at baseline (visit 1) and 74 individuals sampled at baseline and longitudinally during disease progression (total 136 patients).
†Controls include (1) HC, (2) NC. The NC group includes 14 individuals with a diagnosis of relapsing remitting multiple sclerosis (MS; n=5), secondary progressive MS (n=6) and primary progressive MS (n=3),10 individuals with inflammatory demyelinating neuropathies including CIDP, paraproteinaemia-related and multifocal motor neuropathy, 15 individuals with a diagnosis of single-level or multilevel compressive cervical or lumbar radiculopathy, 10 cases of idiopathic or genetically determined neuropathy including CMT and 4 cases with benign fasciculation and cramp syndrome.
ALS, amyotrophic lateral sclerosis; ALSFRS_R, ALS functional rating scale revised; CIDP, chronic inflammatory demyelinating polyneuropathy; CMT, Charcot-Marie-tooth; F, female; HC, healthy controls; NC, neurological disease controls; M, male; NfH, neurofilament heavy chain protein.