Abstract
We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.
Original language | English |
---|---|
Pages (from-to) | 165-168 |
Number of pages | 4 |
Journal | Neuroscience Letters |
Volume | 312 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2001 Oct 26 |
Keywords
- Amyotrophic lateral sclerosis
- Cu/Zn superoxide dismutase
- Homozygous mutation
ASJC Scopus subject areas
- Neuroscience(all)