Table 1.
Demographic Data and Usage of Patient Material
| Subject | Age | Clinical diagnosis | Usage |
|---|---|---|---|
| VWM295 | 4.5 mo | Severe VWM; β, Gly200Val/Pro291Ser* | IHC, WB, qPCR |
| VWM251 | 4 y | Severe VWM; ε, Thr91Ala/Val437Met* | Primary astrocytic culture, ICC |
| VWM576 | 6 y | Severe VWM; ε, Thr91Ala/Val437Met* | Primary oligodendrocytic and astrocytic culture, ICC |
| VWM367 | 10 y | Classic VWM; ε, Arg113His/Ala403Val* | IHC, qPCR |
| VWM80 | 12 y | Classic VWM; ε, Thr91Ala/Trp628Arg* | IHC, WB, qPCR |
| VWM99 | 16 y | Classic VWM; ε, Thr91Ala/Trp628Arg* | IHC |
| VWM3 | 29 y | Mild VWM; ε, Thr91Ala/Thr91Ala* | IHC, WB, qPCR, primary astrocytic culture, ICC |
| VWM44 | 36 y | Mild VWM; ε, Arg113His/Arg133His* | IHC, primary astrocytic culture |
| Control 1 | 29 w GA | Non-neurological control (intrauterine sepsis) | Primary astrocytic culture, ICC |
| Control 2 | 4.5 mo | Non-neurological control (multiple traumatic injuries) | IHC, WB, qPCR |
| Control 3 | 13 y | Non-neurological control (multiple traumatic injuries) | IHC, WB, qPCR |
| Control 4 | 21 y | Non-neurological control (brachio-oto-renal syndrome) | Primary astrocytic culture, ICC, qPCR |
| Control 5 | 47 y | Non-neurological control (refractory epilepsy, surgical specimen) | Primary astrocytic culture, ICC |
| Control 6 | 63 y | Non-neurological control (breast carcinoma) | IHC, qPCR |
| Control 7 | 1 y | Krabbe disease | IHC |
| Control 8 | 12 y | X-linked adrenoleukodystrophy | IHC |
| Control 9 | 29 y | Alexander disease | IHC |
| Control 10 | 66 y | Multiple sclerosis | IHC |
*
The mutant eIF2B subunit and amino acid changes are indicated. IHC, immunohistochemistry; WB, Western blot analysis; qPCR, quantitative PCR analysis; ICC, immunocytochemistry; GA, gestational age; VWM, vanishing white matter disease.