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Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

Title
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
Author
고성호
Keywords
Amyotrophic lateral sclerosis; C9orf72; Hexanucleotide repeat
Issue Date
2013-01
Publisher
Elsevier Science B.V., Amsterdam.
Citation
Neurobiology of Aging, April 2013, 34(4), p.1311.e7-1311.e9
Abstract
The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population.
URI
https://www.sciencedirect.com/science/article/pii/S0197458012004605http://repository.hanyang.ac.kr/handle/20.500.11754/69798
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2012.09.004
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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