Table 1.
Overall neuropathological brainstem findings in 104 SIUDS and 44 controls
| Brainstem structure | Alterations | SIUDS n (%) | CONTROLS n (%) | |
|---|---|---|---|---|
| classification | specific | |||
| Kölliker-Fuse nucleus | Morphological | hypoplasia, agenesis | 61 (59%) | 1 (2%) |
| functional |
<NeuN expression <Orexin expression |
35 (34%) 31 (30%) |
8 (18%) 2 (5%) |
|
| facial/ parafacial complex | morphological | hypoplasia, agenesis, neuronal immaturity | 73 (70%) | 3 (7%) |
| functional |
<NeuN expression < nAChRs |
39 (37%) 41 (39%) |
4 (9%) 0 (0%) |
|
| pre-Bötzinger nucleus | morphological | hypoplasia, agenesis, neuronal immaturity, <dendritic number | 44 (42%) | 0 (0%) |
| functional |
< NeuN expression < nAChRs |
62 (60%) 44 (42%) |
2 (5%) 0 (0%) |
|
| intermediolateral nucleus | morphological | hypoplasia, agenesis | 57 (55%) | 2 (5%) |
| functional |
reactive gliosis >apoptosis |
45 (43%) 34 (33%) |
0 (0%) 4 (9%) |
|
| raphé nuclei | morphological | hypoplasia, agenesisa | 72 (69%) | 5 (11%) |
| functional |
< serotonin expressiona < nAChRs reactive gliosis |
55 (53%) 35 (34%) 64 (62%) |
2 (5%) 0 (0%) 5 (11%) |
|
aThese alterations were significantly related to 5-HTT polymorphism (L/S and L/L genotypes). This association was detected overall in 45 SIUDS cases (43%)