Table 1.
Clinical characterization of SPG11 patients and controls.
| SPG11-1 | SPG11-2 | SPG11-3 | CTRL-1 | CTRL-2 | |
|---|---|---|---|---|---|
| SPG11 mutations | Exon 16: c.3036C>A Exon 30: c.5798delC | Exon 16: c.3036C>A Exon 30: c.5798delC | Exon 2: c.267G>A Intron 6: c.1457-2A > G | - | - |
| Sex | Female | Female | Female | Female | Female |
| Age at onset/age at examination (years) | 24/46 | 20/40 | 31/50 | –/45 | –/28 |
| SPRS (0–52) | 44 | 37 | 36 | 0 | 0 |
| Cognitive impairment | + | + | + | - | - |
| Wheelchair dependency | + | + | + | - | - |
| MRI abnormalities | Cortical atrophy, WML, TCC | Cortical atrophy, WML, TCC | Cortical atrophy, WML, TCC | - | - |
| iPSC clones (n = 2 per line) | SPG11-1a, SPG11-1b | SPG11-2a, SPG11-2b | SPG11-3a, SPG11-3b | CTRL-1a, CTRL-1b | CTRL-2a, CTRL-2b |
Patients, SPG11-1, SPG11-2, SPG11-3; controls, CTR-1, CTRl-2; SPRS, spastic paraplegia rating scale; TCC, thin corpus callosum; WML, white matter lesion; iPSC, induced pluripotent stem cells.