Phenotypic heterogeneity in Alzheimer's disease

Acta Neurol (Napoli). 1991 Dec;13(6):527-33.

Abstract

Probable heterogeneity of Alzheimer's disease is still debated. Many authors report heterogeneity on phenotypic and/or genetic level. We have tried to reveal if variability exists also in an Italian kindred (family N) with early onset Alzheimer's disease in which the illness has been transmitted in a mendelian autosomal fashion since the early eighteenth century. The only parameter that varies widely is the age at death of affected members and it was taken as an index of expression, a measure of phenotypic variability. Extension of this concept will be discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / mortality
  • Chromosomes, Human, Pair 21
  • Genetic Carrier Screening
  • Humans
  • Longevity / genetics
  • Middle Aged
  • Phenotype*