Article
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 1998
Harvey R J, Ellison D, Hardy J, Hutton M, Roques P K, Collinge J, Fox N C, Rossor M N
Abstract excerpt
BACKGROUND: Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S). METHOD: Clinical information...
Topics
- Age of Onset
- Alzheimer Disease
- Amino Acid Substitution
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 14
- Female
- Genes, Dominant
- Humans
- Leucine
- Male
- Membrane Proteins
- Middle Aged
- Mutation