Long-read sequencing identified repeat expansions in the 5′UTR of the <i>NOTCH2NLC</i> gene from Chinese patients with neuronal intranuclear inclusion disease

Abstract

Our findings provided evidence that confirmed the GGC repeated expansion in the 5'UTR of the <i>NOTCH2NLC</i> gene is associated with the pathogenesis of NIID. Additionally, the GGC expansion was not only responsible for adult-onset patients, but also responsible for juvenile-onset patients.