Article
Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.
Acta neuropathologica - 1 Jan 1994
Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S, Ikuta F
Abstract excerpt
Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were...
Topics
- Adult
- Amyotrophic Lateral Sclerosis
- Brain
- Brain Stem
- Chromosomes, Human, Pair 21
- Electromyography
- Female
- Humans
- Mutation
- Organ Size
- Pedigree