Identification of GGC repeat expansion in the <i>NOTCH2NLC</i> gene in amyotrophic lateral sclerosis

Abstract

Our results suggest that ALS is a specific phenotype of NIID or that GGC expansion in <i>NOTCH2NLC</i> is a factor that modifies ALS. These findings may help clarify the pathogenic mechanism of ALS and may expand the known clinical spectrum of NIID.