Table 1. Baseline characteristics of patients in PBMC study.
| Type 1a (n = 18) | Type 2 (n = 60) | Type 3ab (n = 26) | Type 3b (n = 26) | Type 4 (n = 5) | Controls (n = 229) | |
|---|---|---|---|---|---|---|
| Gender (n) (F:M) | 7:11 | 36:24 | 15:11 | 11:15 | 4:1 | 115:114 |
| Mean age at inclusion in years (range) | 10.6 (0.3–49.7) | 19.6 (1–66.7) | 36.8 (2.4–65.7) | 38.8 (14–75) | 51.2 (41–68.8) | 32.7 (0.3–86) |
| Mean disease duration in years (range) | 11.1 (0.1–48.4) | 18.2 (0.3–64.8) | 33.6 (1.2–62.2) | 29.5 (2–71.4) | 14.3 (7.5–24.2) | NA |
| Mean HFMSE (range) | 0 (0–1) | 8 (0–35) | 17 (0–44) | 36 (4–66) | 48 (43–53) | ND |
| Mean MRC sum score (range) | 51 (34–62) | 89 (43–140) | 104 (56–160) | 146 (100–167) | 147 (121–162) | ND |
| SMN2 copy number (n) | ||||||
| 2 | 4 | 3 | 0 | 0 | 0 | ND |
| 3 | 13 | 52 | 14 | 3 | 0 | ND |
| 4 | 1 | 5 | 10 | 21 | 4 | ND |
| 5 | 0 | 0 | 0 | 2 | 0 | ND |
PBMC = Peripheral blood mononuclear cell; F = female; M = male; SMN = survival motor neuron; HFMSE: Hammersmith Functional Motor Scale Expanded; MRC = Medical Research Council; ND = not determined; NA = not applicable
a = Six patients with SMA type 1 had survived infancy at time of inclusion
b = One patient had a heterozygous SMN1-deletion and a pathogenic point mutation resulting in stop codon in exon 4