Table 1.
Type of cohort (N) | Muscle biopsy cohort* (N = 87)
|
|||
---|---|---|---|---|
ALS patients | ONP patients | Healthy controls | ||
Patients' characteristics | (n =49) | (n = 14) | (n = 24) | |
Gender (n) | Female | 15 | 8 | 19 |
Male | 34 | 6 | 5 | |
Age at illness onset (mean ± SD) | 57.02 ± 12.42 | 43.79 ± 16.02 | ||
Age at biopsy (mean ± SD) | 58.65 ± 12.52 | 42.34 ± 25.89 | 55.07 ± 26.07 | |
Disease duration, months (mean ± SD) | 19.54 ± 25.15 | |||
Clinical Phenotype (n) | ALS, spinal | 42 | ||
ALS, bulbar | 6 | |||
ALS + FTD | 1 | |||
OMD | 5 | |||
SMA | 5 | |||
CIDP | 1 | |||
KD | 1 | |||
NMD | 1 | |||
AD (Early) | 1 | |||
ALSFRS-r at biopsy (mean ± SD) | 40.24 ± 6.20 | |||
El Escorial criteria at onset (n) | Unavailable | 33 | ||
Defined | 1 | |||
Probable | 6 | |||
Possible | 5 | |||
Suspected | 4 | |||
Genetic Diagnosis (n) | SALS | 26 | ||
FALS | 6 | |||
SALS + FTD | 2 | |||
MND-FTD | 1 | |||
PLS-SALS | 1 | |||
PMA-SALS | 1 | |||
Unavailable | 12 |
All subjects were of caucasian ethic group.
ALS, amyotrophic lateral sclerosis; SALS, sporadic ALS; FALS, familial ALS; ALSFRS-r, the revised ALS Functional Rating Scale; ONP, other neuropathies; FTD, frontal temporal dementia; OPMD, oculopharyngeal muscular dystrophy; SMA, spinal muscular atrophy; CIDP, chronic inflammatory demyelinating polyneuropathy; KD, Kennedy Disease; MND, motor neuron disease (cervical myelopathy); AD, Alzheimer Disease (early); PLS, Primary Lateral Sclerosis; PMA, Primary Muscular Atrophy.