Table 1.
Clinical details of the multiple sclerosis cases and controls.
| Cases | Age (gender) | Tissue type | Type of MS | Disease duration (years) | Time from wheelchair (years) | PM time (hours) |
|---|---|---|---|---|---|---|
| MS01 | 40 M | PM | SP | 23 | 23 | 18 |
| MS02 | 44 F | PM | SP | 10 | 10 | 9 |
| MS03 | 45 F | PM | PP | 20 | 13 | 18 |
| MS04 | 46 M | PM | SP | 20 | 7 | 12 |
| MS05 | 47 F | PM | SP | 13 | 10 | 27 |
| MS06 | 49 F | PM | SP | 23 | 11 | 7 |
| MS07 | 49 F | PM | SP | 17 | NA | 21 |
| MS08 | 50 F | PM | SP | NA | NA | 22 |
| MS09 | 51 F | PO | RP | 12 | 0 | — |
| MS10 | 52 F | PM | SP | 15 | 8 | 12 |
| MS11 | 53 M | PM | PP | 12 | 7 | 15 |
| MS12 | 54 F | PM | SP | 26 | 6 | 11 |
| MS13 | 55 F | PM | SP | 27 | 7 | 14 |
| MS14 | 61 M | PM | SP | 20 | 9 | 24 |
| MS15 | 72 M | PM | SP | 27 | NA | 23 |
| MS16 | 75 M | PM | SP | 32 | 16 | 22 |
| MS17 | 82 F | PM | SP | 45 | 14 | 15 |
| CON01 | 42 F | PO | — | — | — | — |
| CON02 | 42 M | PO | — | — | — | — |
| CON03 | 51 M | PO | — | — | — | — |
| CON04 | 52 F | PO | — | — | — | — |
| CON05 | 53 M | PO | — | — | — | — |
| CON06 | 57 F | PM | — | — | — | 16 |
| CON07 | 62 F | PM | — | — | — | 21 |
| CON18 | 64 M | PM | — | — | — | 18 |
| CON19 | 64 M | PO | — | — | — | — |
| CON10 | 65M | PO | — | — | — | — |
| CON11 | 71 M | PM | — | — | — | 14 |
| CON12 | 72 M | PO | — | — | — | — |
| CON13 | 74 M | PO | — | — | — | — |
| CON14 | 77 M | PM | — | — | — | 26 |
| CON15 | 82 M | PM | — | — | — | 21 |
The mean age of MS cases (54.41 ± 11.63) was not significantly different from controls (61.87 ± 12.22, p = 0.09). None of the MS cases were on prescribed disease-modifying therapy. The family history suggestive of a primary mitochondrial disorder was not documented in any of the cases. All MS cases contained mtDNA deletions in excess of age in non-lesion grey matter from either brain or spinal cord (Supplementary Figure 1) and satisfied MacDonald criteria 2001 for the diagnosis of MS.
MS: multiple sclerosis; M: male; F: female; CON: control (as previously described23); mtDNA: mitochondrial DNA; NA: not available; PM: post-mortem; PO: peri-operative; PP: primary progressive; RP: relapsing progressive; SP: secondary progressive.