Article
Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.
Neurology - 15 Dec 2020
Yuan Yanchun, Liu Zhen, Hou Xuan, Li Wanzhen, Ni Jie, Huang Ling, Hu Yiting, Liu Pan, Hou Xiaorong, Xue Jin, Sun Qiying, Tian Yun, Jiao Bin, Duan Ranhui, Jiang Hong, Shen Lu, Tang Beisha, Wang Junling
Abstract excerpt
OBJECTIVE: To determine whether the GGC repeats in the NOTCH2NLC gene contribute to amyotrophic lateral sclerosis (ALS). METHODS: In this study, 545 patients with ALS and 1,305 healthy controls from mainland China were recruited. Several pathogenic mutations in known ALS-causative genes (including C9ORF72 and ATXN2) and polynucleotide repeat expansions in NOP56 and AR genes were excluded. Repeat-primed PCR and...
Topics
- Amyotrophic Lateral Sclerosis
- DNA Repeat Expansion
- Disease Progression
- Humans
- Intranuclear Inclusion Bodies
- Male
- Middle Aged
- Neurodegenerative Diseases
- Phenotype
- Severity of Illness Index