Table 1.
Donors’ demographic, clinical and genetic characteristics
| Donor ID | Sex | Diagnosis | Gene variants | Age at death | Cause of death | P-M-D (hours) | pH of hCSFa |
|---|---|---|---|---|---|---|---|
| Neuropathological disease donors | |||||||
| VWM (VWM492) | F | Vanishing white matter | EIF2B5, c.271 A > G, p.(Thr91Ala) and c.1745 + 5G > A, p.(Tyr583X) | 61 y | Disease progression | 4.0 | n.a.b |
| PMD (H342) | M | Pelizaeus-Merzbacher disease | PLP1 duplication | 14 y | Disease progression | 4.0 | 8.6 |
| MLD | F | Metachromatic leukodystrophy | ARSA, c.1277 C > T, p.(Pro426Leu) and c.1130 C > T, p.(Pro377Leu) | 11 y |
Late GvHD following HSCT at 7 y |
3.0 | 8.2 |
| ALSP | M | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | CSF1R, c.2329 C > T, p.(Arg777Trp) | 50 y | Disease progression | 4.0 | 8.2 |
| HYPO | F | Hypomyelination | TUBB2A, c.1090_1092 del, p.(Ser364del), de novo | 3 y | Disease progression and pneumonia | 4.0 | 7.6 |
| AxD | F | Alexander disease | GFAP, c.223G > A, p.(Glu75Lys), de novo | 69 y | Disease progression | 3.5 | 7.6 |
| MS | F | Multiple Sclerosis | - | 69 y | Rectal cancer | 6.0 | 6.5 |
| Psychiatric disorder donors | |||||||
| PSY1 | F | Post-traumatic stress disorder | - | 60 y | Legal euthanasia | 4.0 | 6.8 |
| PSY2 | F | Bipolar disorder | - | 41 y | Legal euthanasia | 5.5 | 6.4 |
| PSY3 | M | Bipolar disorder | - | 63 y | Legal euthanasia | 5.5 | 6.6 |
| PSY4 | F | Chronic fatigue syndrome, COPD | - | 64 y | Lung emphysema | 6.0 | 6.4 |
| Control donors | |||||||
| CTRL1 | M | Non-demented control, COPD | - | 94 y | Respiratory insufficiency due to COPD | 4.5 | 6.6 |
| CTRL2 | F | Femur fracture | - | 88 y | Legal euthanasia | 4.0 | 6.7 |
| CTRL3 | F | Non-demented control, Endocrine disease | - | 92 y | Heart failure | 4.5 | 6.3 |
| CTRL4 | M | Non-demented control | - | 58 y | Out-of-hospital cardiac arrest | 4.0 | n.a.b |
ARSA = arylsulfatase A, COPD = chronic obstructive pulmonary disease, CSF1R = colony stimulating factor 1 receptor, CTRL = control, EIF2B = eukaryotic translation initiation factor 2B, hCSF = human cerebrospinal fluid, F = female, GFAP = glial fibrillary acidic protein, GvHD = graft-versus-host disease, HSCT = hematopoietic stem cell transplantation, M = male, n.a. = not available, PLP1 = proteolipid protein 1, P-M-D = post-mortem delay, PSY = psychiatric disorder, TUBB2A = tubulin beta 2B class IIa, y = years
a CSF pH measurements were performed after one freeze-thaw cycle for the leukodystrophy patients and immediately after collection for all other donors
b No CSF pH measurement available