Among them, a trinucleotide repeat (GGC) abnormal expansion in the 5′-untranslated region of the Notch Homolog 2 N-Terminal-Like C gene (NOTCH2NLC) in chromosome 1 attracted substantial attention and was reported as the cause of neuronal intranuclear inclusion disease (NIID) in Chinese and Japanese studies [2,3,4]. Here, NOTCH2NLC is linked to neuronal intranuclear inclusion disease.