Table 1.
Clinical characteristics of South African ALS patients according to C9orf72 allele repeat size.
| Clinical characteristics | <20 repeats n (%) |
>30 repeats n |
|---|---|---|
| Disease phenotype | ||
| ALS | 123 (86) | 8 |
| PMA | 9 (6) | 1 |
| PLS | 7 (5) | 1 |
| FA | 4 (3) | 0 |
| Clinical presentation | ||
| lumbosacral | 65 (45) | 7 |
| cervical | 56 (39) | 2 |
| bulbar | 18 (13) | 1 |
| respiratory | 3 (2) | 0 |
| behavioral | 1 (1) | 0 |
| Genetic ancestry | ||
| black African | 24 (17) | 0 |
| Cape M/A | 65 (45) | 6 |
| white | 51 (36) | 4 |
| Indian | 3 (2) | 0 |
Legend: n refers to the number of individuals with one allele in a particular size range.