“…Importantly, this is the first study investigating the role of TREX1 mutations in a large multi-ethnic cohort of unrelated CADASIL-like patients, who did not carry causative mutations in NOTCH3 . Previous literature investigated the role of TREX1 in multigenerational families or small groups of related patients from Asia (Taiwan, China, Japan), Europe (Italy, Nederland, Germany, Switzerland), USA (St. Louis, Los Angeles) and Mexico ( Soong et al, 2013 ) , ( Xie et al, 2021 ) , ( Saito et al, 2019 ) , ( DiFrancesco et al, 2015 ) , ( Pelzer et al, 2013 ) , ( Hedderich et al, 2020 ) , ( Dhamija et al, 2015 ) , ( Monroy-Jaramillo et al, 2018 ). Our study expands the clinical endophenotypes associated to TREX1 coding mutations and the genetic spectrum at the basis of CADASIL-like phenotype and warrants additional studies in larger cohorts.…”