Table 2.
General and clinical characteristics of the study subjects in the blood study cohort.
| Type of cohort (N) | Blood cohort* (N = 141)
|
|||
|---|---|---|---|---|
| ALS patients | ONP patients | Healthy controls | ||
| Patients’ characteristics | (n = 59) | (n= 24) | (n = 58) | |
| Gender (n) | Female | 25 | 10 | 31 |
| Male | 34 | 14 | 27 | |
| Age at illness onset (mean ± SD) | 60.98 ± 14.07 | 43.79 ± 16.02 | ||
| Age at biopsy (mean ± SD) | 62.10 ± 14.00 | 55.74 ± 12.32 | 55.74 ± 12.31 | |
| Disease duration, months (mean ± SD) | 14.53 ± 14.66 | |||
| Clinical Phenotype (n) | ALS | 59 | ||
| CIDP | 1 | |||
| KD | 1 | |||
| NMD | 1 | |||
| AD (Early) | 1 | |||
| BMD | 2 | |||
| ES | 1 | |||
| FMD | 4 | |||
| HPP (Type-1) | 1 | |||
| LMD | 1 | |||
| MM | 1 | |||
| MD (Type-1) | 9 | |||
| MD (Type-2) | 1 | |||
| Site at onset (n) | Lower limb | 27 | ||
| Upper limb | 17 | |||
| Bulbar | 10 | |||
| Generalized | 4 | |||
| Respiratory | 1 | |||
| None | ||||
| ALSFRS-r at onset (mean ± SD) | 42.71 ± 6.86 | |||
| ALSFRS-r at biopsy (mean ± SD) | 34.47 ± 7.82 | |||
| El Escorial criteria at onset (n) | Unavailable | 18 | ||
| Defined | 17 | |||
| Probable | 18 | |||
| Possible | 3 | |||
| Suspected | 2 | |||
| Genetic Diagnosis (n) | SALS | 33 | ||
| FALS (4m**) | 18 | |||
| FALS (SOD1) | 6 | |||
| FALS (SETX) | 1 | |||
| Unavailable | 1 | |||
*
All subjects were of caucasian ethic group except two latin-american and one asiatic.
**
Four mutations for ALS are present: SOD1/TDP43/FUS/c9orf72. ALS, amyotrophic lateral sclerosis; ONP, other neuropathies; CIDP, chronic inflammatory demyelinating polyneuropathy; KD, Kennedy Disease; MND, motor neuron disease (cervical myelopathy); AD, Alzheimer Disease (early); BMD, Becker's Muscular Dystrophy; ES, extrapyramidal syndrome; FMD, Facio-capulo-humeral muscular distrophy; HPP, Hypokaliemic Periodic Paralysis; LMD, limb-girdle muscular distrophy; MM, mild myotonia; MD, Myotonic Dystrophy.