Neurobiology of Aging ( IF 4.2 ) Pub Date : 2021-07-23 , DOI: 10.1016/j.neurobiolaging.2021.07.011 Kang-Yang Jih , Ying-Tsen Chou , Pei-Chien Tsai , Yi-Chu Liao , Yi-Chung Lee
The GGC repeat expansion in the 5’-untranslated region of NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease (NIID). To determine if the NIID repeat expansion contributes to amyotrophic lateral sclerosis (ALS), we screened 304 unrelated ALS patients and 637 healthy controls for the GGC repeat expansion in NOTCH2NLC using repeat-primed PCR and fragment analysis. None of the ALS patients carried the GGC repeat expansion. The sizes of the GGC repeats ranged from 7 to 36 in the ALS patients and 4 to 46 in the controls. The distribution of the GGC repeat sizes did not differ between the two groups. Our findings indicate that the NOTCH2NLC GGC repeat expansion is absent or extremely rare in Taiwanese patients with ALS.