Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes

J Neurol. 2001 Jan;248(1):45-50. doi: 10.1007/s004150170268.

Abstract

Patients with familial Alzheimer's disease and a subset known to have presenilin mutations were compared with sporadic cases on a comprehensive battery of cognitive tests. These included measures of memory, intelligence, language and perception. The three groups were very comparable, in terms of severity, on global measures of dementia. However, their profiles/patterns of cognitive impairment differed in two respects; the group with sporadic Alzheimer's disease were significantly more impaired on tests of object naming and object perception than either the group with familial Alzheimer's disease or group with familial Alzheimer's disease and presenilin mutations, yet they scored at a significantly higher level on the measure of verbal intelligence. This study provides further evidence of the heterogeneity of the disease process.

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Alzheimer Disease / psychology*
  • Amyloid beta-Protein Precursor / genetics*
  • Cognition Disorders / etiology
  • Cognition Disorders / genetics*
  • Cognition Disorders / psychology
  • Female
  • Humans
  • Intelligence
  • Language
  • Male
  • Membrane Proteins / genetics*
  • Memory Disorders / etiology
  • Middle Aged
  • Neuropsychological Tests
  • Pedigree
  • Point Mutation
  • Presenilin-1
  • Task Performance and Analysis

Substances

  • Amyloid beta-Protein Precursor
  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1