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.
Keywords
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Article info
Publication history
Published online: April 15, 2011
Accepted:
March 24,
2011
Received in revised form:
March 21,
2011
Received:
November 15,
2010
Footnotes
☆The funding organization had no role in the genetic analysis, or in the preparation of this report. The authors have no potential conflict of interest to report concerning this article. Dr. Seung-Hyun Kim and Dr. Chang-Seok Ki received research grants from the Korean Health Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea. Dr. Wonki Baek, Seong-Ho Koh, Jin Seok Park, Young Seo Kim and Min Jung Kwon have nothing to disclose.
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Copyright
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
