Table 2 Clinical data of NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants with MS
From: Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants
Features | Total AIDs with MS (n = 111) | NLRP3 variants with MS (n = 19) | MEFV variants with MS (n = 34) | TNFRSF1A variants with MS (n = 58) | MS w/o mutations (n = 51) |
|---|---|---|---|---|---|
M:F | 1:2.2 | 1:1.7 | 1:2.4 | 1:3.4 | 1:2 |
Age at MS diagnosis (years) | 29.6 ± 12.3 | 31.5 ± 11.5 (11–48) | 28.4 ± 12.3 (7–63) | 28.9.0 ± 12.4 (12–51) | 32.7.0 ± 11.7 (14–56) |
Diagnose latency for MS (years) | 3.3 ± 5.8 | 4.3 ± 6.7 (0–29) | 2.9 ± 5.2 (0–25) | 2.8.0 ± 4.0 (0–29) | 2.3.0 ± 3.0 (0–29) |
MS disease duration (years) | 14.6 ± 8.6 | 12.2 ± 8.6 (3–35) | 13.8 ± 8.5 (3–27) | 17.7 ± 8.8 (5–32) | 14.0 ± 7.8 (8–43) |
RRMS | 92/83% | 18/95% | 30/88% | 44/76% | 39/76% |
SPMS | 12/11% | 1/5% | 2/6% | 9/16% | 7/14% |
PPMS | 7/6% | 0/0% | 2/6% | 5/8% | 5/10% |
EDSS at baseline | 3 ± 2 | 4 ± 2 | 3 ± 2 | 3 ± 2 | 3 ± 2 |
EDSS at follow-up | 3 ± 2 | 3.5 ± 2 | 3.5 ± 2 | 3 ± 2 | 3.3 ± 2 |
MSSS at baseline | 3.1 ± 1.9 | 4.4 ± 2.6 | 3.8 ± 2.3 | 3.8 ± 2.6 | 3.8 ± 1.8 |
MSSS at follow-up | 3.1 ± 1.9 | 3.2 ± 2.2 | 3.4 ± 1.7 | 2.8 ± 2 | 2.9 ± 1.5 |
DMT for mild disease course* | 67/60% | 10/53% | 28/82% | 29/50% | 35/68% |
DMT for moderate/severe disease course** | 31/28% | 3/16% | 6/18% | 22/38% | 9/18% |
No DMT | 13/12% | 6/32% | 0/0% | 7/12% | 7/14% |
Positive family history for MS | 23/21% | 5/26% | 6/18% | 12/21% | 6/12% |