Article
Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.
European journal of human genetics : EJHG - 1 Jan 2000
Byrne P C, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey N A
Abstract excerpt
We report linkage of a family affected with autosomal dominant hereditary spastic paraparesis (HSP) and/or cognitive impairment to the HSP locus on chromosome 2p. To date all families linked to this locus have been affected with 'pure' HSP. The specific pattern of cognitive impairment in this fam...
Topics
- Aged
- Chromosomes, Human, Pair 2
- Cognition Disorders
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Spastic Paraplegia, Hereditary