Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis
- Resource Type
- Authors
- Pei-Chien Tsai; Ying-Tsen Chou; Yi-Chu Liao; Kang-Yang Jih; Yi-Chung Lee
- Source
- Neurobiology of aging. 108
- Subject
- Untranslated region
Adult
Male
Aging
Pathology
medicine.medical_specialty
Adolescent
Taiwan
Nerve Tissue Proteins
Biology
NEURONAL INTRANUCLEAR INCLUSION DISEASE
Young Adult
Asian People
medicine
Humans
Amyotrophic lateral sclerosis
Aged
Aged, 80 and over
General Neuroscience
Amyotrophic Lateral Sclerosis
Middle Aged
medicine.disease
Intercellular Signaling Peptides and Proteins
Female
Neurology (clinical)
Geriatrics and Gerontology
Trinucleotide repeat expansion
5' Untranslated Regions
Trinucleotide Repeat Expansion
Developmental Biology
- Language
- ISSN
- 1558-1497
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.