Table 6 Genotype–phenotype correlation analysis
From: Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen
Patients | Gender | SMA type | SMN2 copy number | Age at onset (months) | Age at baseline (years) | HFMSE at baseline (T0) | HFMSE after treatment (T6) | ΔHFMSE |
|---|---|---|---|---|---|---|---|---|
Homogeneous | ||||||||
Patient 1 | F | 2 | 3 | 9 | 6 | 12 | 14 | 2 |
Patient 2 | M | 2 | 3 | 10 | 3 | 20 | 20 | 0 |
Patient 3 | M | 2 | 3 | 10 | 8 | 13 | 11 | − 2 |
Patient 4 | M | 2 | 3 | 13 | 7 | 14 | 15 | 1 |
Patient 5 | F | 2 | 3 | 6 | 4 | 22 | 32 | 10 |
Patient 6 | M | 2 | 3 | 12 | 2 | 9 | 13 | 4 |
Patient 7 | F | 2 | 3 | 14 | 2 | 30 | 33 | 3 |
Patient 8 | F | 3 | 2 | 6 | 6 | 3 | 2 | − 1 |
Patient 9 | F | 3 | 4 | 36 | 9 | 62 | 63 | 1 |
Patient 10 | F | 2 | 3 | 10 | 1 | 14 | 17 | 3 |
Patient 11 | M | 2 | 3 | 9 | 2 | 4 | 8 | 4 |
Patient 12 | M | 3 | 4 | 50 | 14 | 62 | 63 | 1 |
Heterogeneous | ||||||||
Patient 13 | F | 2 | 3 | 9 | 8 | 19 | 21 | 2 |
Patient 14 | F | 2 | 3 | 8 | 6 | 8 | 9 | 1 |
Patient 15 | M | 3 | 2 | 48 | 4 | 62 | 63 | 1 |
Patient 16 | M | 2 | 3 | 10 | 1 | 11 | 13 | 2 |
Patient 17 | M | 2 | na | 9 | 9 | 7 | 9 | 2 |
Patient 18 | F | 2 | 3 | 12 | 2 | 27 | 35 | 8 |