A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

R Queralt; M Ezquerra; A Lleó; M Castellví; J Gelpí; I Ferrer; N Acarín; L Pasarín; R Blesa; R Oliva

doi:10.1136/jnnp.72.2.266

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):266-9. doi: 10.1136/jnnp.72.2.266.

Authors

R Queralt¹, M Ezquerra, A Lleó, M Castellví, J Gelpí, I Ferrer, N Acarín, L Pasarín, R Blesa, R Oliva

Affiliation

¹ Genetics Service, Hospital Clínic, Universitat de Barcelona, Spain. roliva@clinic.ub.es

Abstract

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alzheimer Disease / diagnosis
Alzheimer Disease / genetics*
Alzheimer Disease / pathology
Brain / pathology
Chromosomes, Human, Pair 14
DNA Mutational Analysis
Exons
Follow-Up Studies
Humans
Male
Membrane Proteins / genetics*
Mental Disorders / diagnosis
Mental Disorders / genetics*
Mental Disorders / pathology
Middle Aged
Mutation / genetics
Neuropsychological Tests
Pedigree
Presenilin-1

Substances

Membrane Proteins
PSEN1 protein, human
Presenilin-1