Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants

Abstract

Our data highlight the high prevalence of neurological manifestations, including concomitant MS, among NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants. In particular, patients carrying the Q703K NLRP3 variant are at risk for severe CNS inflammation and CN affection.