Article
The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 1998
Meyer T, Münch C, Völkel H, Booms P, Ludolph A C
Abstract excerpt
OBJECTIVES: To investigate if sequence alterations of the excitatory amino acid transporter gene EAAT2 (GLT-1) may be a contributory factor to the pathogenesis of motor system degeneration. EAAT2 serves as a candidate gene as its reduced expression was reported in patients with amyotrophic latera...
Topics
- Adult
- Alleles
- Amyotrophic Lateral Sclerosis
- Chromosomes, Human, Pair 14
- Excitatory Amino Acid Transporter 2
- Heterozygote
- Humans
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Receptors, Neurotransmitter
- Spastic Paraplegia, Hereditary