TABLE 1.
The demographic and clinical characteristics of ALS patients.
| Patient ID | Gender | Family history | AAO (y) | SOO (1 = Bul,2 = UL, 3 = LL) | Clinical phenotype | Clinically affected regions when muscle biopsy | EMG testing when muscle biopsy | Muscle biopsy | King's college stage when muscle biopsy | Final diagnosis (based on Airlie diagnostic criteria) | Gene mutation screening | Survival (m) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Duration until muscle biopsy (m) | Site of muscle biopsy (1 = biceps, 2 = deltoid, 3 = quadriceps, 4 = tibialis anterior) | Pathological diagnosis | Histopathology grading scale (cumulative score; range from 0 to 12 points) | pTDP‐43 score | ||||||||||||
| ALS‐01 | Male | No | 50 | 2 | LMN + UMN | 3 | FPs + sw; without confirmed neurogenic lesions | 53 | 1 | Neurogenic | 4 | 4 | 4B | Definite ALS | C9ORF72 (−), ATXN2 (−), WES (−) | 60 |
| ALS‐02 | Female | No | 71 | 3 | LMN + UMN | 2 | Myogenic lesions | 15 | 1 | Neurogenic | 3 | 5 | 2B | Probable ALS | ND | 31 |
| ALS‐03 | Female | No | 62 | 1 | UMN‐dominant | 3 | Myogenic lesions | 36 | 1 | Neurogenic | 3 | 4 | 3 | Definite ALS | C9ORF72 (−), ATXN2 (−), WES (−) | 57 |
| ALS‐04 | Female | No | 52 | 3 | LMN‐dominant | 2 | Neugenic lesions | 4 | 1 | Neurogenic | 1 | 5 | 2B | Possible ALS | C9ORF72 (−), ATXN2 (−), WES (−) | 12 |
| ALS‐05 | Female | No | 51 | 2 | LMN‐dominant | 2 | Myogenic lesions | 5 | 1 | Neurogenic | 3 | 7 | 2B | Definite ALS (genetic) | SOD1: c.214C > T, p.H72Y | 12 |
| ALS‐06 | Female | No | 54 | 1 | LMN + UMN | 3 | Neugenic lesions | 70 | 2 | Neurogenic | 2 | 8 | 3 | Definite ALS (genetic) | C9ORF72(GGGGCC): n > 90 | Alive (>79) |
| ALS‐07 | Female | No | 13 | 3 | UMN‐dominant | 3 | Neugenic lesions | 23 | 2 | Neurogenic | 2 | 0 | 3 | Definite ALS (genetic) | FUS: c.1574C > T, p.P525L | Alive (>111) |
| ALS‐08 | Female | No | 46 | 2 | LMN‐dominant | 2 | Neugenic lesions | 26 | 4 | Neurogenic | 3 | 5 | 2B | Possible ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>39) |
| ALS‐09 | Male | No | 55 | 1 | LMN + UMN | 1 | Neugenic lesions | 16 | 1 | Neurogenic | 1 | 5 | 1 | Definite ALS (genetic) | C9ORF72(GGGGCC): n > 86 | Alive (>28) |
| ALS‐10 | Male | No | 73 | 1 | LMN + UMN | 1 | FPs + sw; without confirmed neurogenic lesions | 17 | 1 | Neurogenic | 1 | 6 | 1 | Probable ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>29) |
| ALS‐11 | Male | No | 48 | 2 | LMN + UMN | 2 | Neugenic lesions | 8 | 1 | neurogenic | 2 | 5 | 2B | Probable ALS | C9ORF72 (−), ATXN2 (−), WES (−) | 19 |
| ALS‐12 | Male | No | 44 | 1 | LMN + UMN | 1 | Neugenic lesions | 9 | 2 | Neurogenic | 1 | 5 | 1 | Possible ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>18) |
| ALS‐13 | Female | Yes | 35 | 2 | LMN‐dominant | 1 | Neugenic lesions | 6 | 1 | Neurogenic | 2 | 3 | 1 | Definite ALS (genetic) | SOD1: c.449 T > C, p.I150T | Alive (>13) |
| ALS‐14 | Male | No | 72 | 3 | LMN + UMN | 2 | Neugenic lesions | 20 | 3 | Neurogenic | 1 | 5 | 2B | Probable ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>39) |
| ALS‐15 | Male | Yes | 47 | 1 | LMN + UMN, dementia | 1 | FPs + sw; without confirmed neurogenic lesions | 19 | 1 | Neurogenic | 1 | 4 | 1 | Definite ALS (genetic) | C9ORF72(GGGGCC): n > 60 | Alive (>25) |
| ALS‐16 | Female | No | 62 | 2 | LMN + UMN | 1 | Neugenic lesions | 8 | 1 | Neurogenic | 1 | 5 | 1 | Possible ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>14) |
| ALS‐17 | Female | No | 56 | 2 | LMN + UMN | 2 | Neugenic lesions | 13 | 1 | Neurogenic | 1 | 4 | 2B | Probable ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>18) |
| ALS‐18 | Female | No | 45 | 2 | LMN + UMN | 1 | Neugenic lesions | 5 | 1 | Neurogenic | 1 | 3 | 1 | Possible ALS | C9ORF72 (−), ATXN2 (−), WES (−) | Alive (>7) |
Abbreviations: AAO, age at onset; Bul, bulbar; EMG, electromyography; FPs, fibrillation potentials; LL, lower limb; LMN, lower motor neuron; ND, not detected; SOO, site of onset; sw, positive sharp waves; UL, upper limb; UMN, upper motor neuron; WES, whole‐exome sequencing.