𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14

✍ Scribed by Mullan, Michael ;Bennett, Craig ;Figueredo, Cecilia ;Hughes, David ;Mant, Rebecca ;Owen, Michael ;Warren, Andrew ;McInnis, Melvin ;Marshall, Anne ;Lantos, Peter ;Collinge, John ;Goate, Alison ;Houlden, Henry ;Crawford, Fiona

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
868 KB
Volume
60
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Early onset familial Alzheimer's disease (AD) has an autosomal dominant mode of inheritance. T w o genes are responsible for the majority of cases of this subtype of AD. Mutations in the P-amyloid precursor protein (PAPP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with PAPP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val -+ Ile) or a valine to glycine (Val -+ Gly) change.

More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the PAPP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14577.

πŸ“œ SIMILAR VOLUMES

Apolipoprotein E genotypes and age of on
Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease
✍ Ephrat Levy-Lahad; Amnon Lahad; Ellen M. Wijsman; Thomas D. Bird; Dr Gerard D. S πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 339 KB πŸ‘ 2 views

## Abstract The effect of the apolipoprotein E (APOE) Ο΅4 allele on age of onset was analyzed in two groups of families with early‐onset Alzheimer's disease (AD), (1) Volga German (VG) kindreds, in which AD is caused by an unknown locus and (2) early‐onset non‐VG families showing evidence of linkage

The clinical phenotype of familial and s
The clinical phenotype of familial and sporadic late onset Alzheimer's disease
✍ Clive Holmes; Simon Lovestone πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 52 KB πŸ‘ 1 views

## Abstract ## Background Familial factors are clearly associated with an increased risk of developing late onset Alzheimer's disease (LOAD). However, there is emerging evidence to suggest that familial factors may also influence clinical phenotype. To date, most studies have focussed on familial

Characteristics of familial aggregation
Characteristics of familial aggregation in early-onset Alzheimer's disease: Evidence of subgroups
✍ Campion, D. ;Martinez, M. ;Hannequin, D. ;Brice, A. ;Thomas-Anterion, C. ;Michon πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 810 KB

Characteristics of familial aggregation of Alzheimer's Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total