[Performance of carriers and non-carriers of the E280A mutation for familial Alzheimer's disease in a naming test]

Rev Neurol. 2004 Aug;39(4):322-6.
[Article in Spanish]

Abstract

Introduction: Early preclinical diagnosis is the greatest challenge faced by researchers into dementia. Cognitive, neuroanatomical, neurophysiological and genetic markers have been reported. One of the preclinical cognitive markers is anomia and it is often assessed using visual naming tests.

Aims: The aim of this study was to analyse the type of mistakes made in a visual naming test in a group of carriers and non-carriers of the E280A PS1 mutation.

Patients and methods: The sample was made up of 91 participants who were genotyped for the E280A PS1 mutation and divided into three groups: non-carriers (n = 30), asymptomatic carriers (n = 39) and sick carriers (n = 22). Selection was performed using the Minimental and the Fast and EDG scales and mistakes in the CERAD naming test were classified. The types of mistakes taken into account were: no answer, visual, semantic, phonological, the whole for the part, and not related.

Results: There is a significant difference in the number of semantic errors between non-carriers and asymptomatic carriers; on comparing the three groups, no statistically significant differences were found in visual mistakes.

Conclusions: Visual mistakes are a general characteristic, even in healthy subjects and, therefore, these errors did not provide any information that could be used to classify patients with or without dementia. Semantic mistakes can be considered as being a preclinical sign in familial Alzheimer's disease (FAD). Both visual and auditory naming tests must be applied when evaluating patients with FAD.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Anomia / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Neuropsychological Tests*
  • Presenilin-1

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1