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.

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