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A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis

Title
A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis
Author
고성호
Keywords
Familial ALS; Novel mutation; SOD1; A4F; Codon4; Upper motor neuron signs
Issue Date
2011-07
Publisher
ELSEVIER SCIENCE BV, PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
Citation
JOURNAL OF THE NEUROLOGICAL SCIENCES,권: 306 호: 1-2 페이지: 157-159
Abstract
We identified a novel missense mutation in the Cu/Zn superoxide dismutase (SOD1) gene in a 47-year-old woman with familial amyotrophic lateral sclerosis (ALS). The heterozygous mutation, in exon 1 of the SOD1 gene, is a GC to TT transversion in nucleotide positions 13 and 14 leading to an alanine 4 to phenylalanine (A4F) amino acid substitution. It was found in six family members. The effect of the A4F mutation was of similar severity to that of the A4V mutation. We discuss structural instability as a possible pathogenic mechanism in the case of this SOD1 mutation. The proband displayed upper motor neuron signs not observed in individuals with other codon 4 mutations. This could be because longer survival allows UMN dysfunction to become evident. We also provide a literature review.
URI
http://www.sciencedirect.com/science/article/pii/S0022510X11001729?via%3Dihubhttp://repository.hanyang.ac.kr/handle/20.500.11754/72911
ISSN
0022-510X
DOI
10.1016/j.jns.2011.03.041
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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