Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations

Alzheimer Dis Assoc Disord. 2008 Apr-Jun;22(2):194-5. doi: 10.1097/WAD.0b013e3181664ea4.

Abstract

Mutations in 3 genes are known to be deterministic for early-onset familial Alzheimer disease. The genes are presenilin-1, presenilin-2, and amyloid precursor protein. As these genes prove to be negative in patients with a clinical diagnosis of early-onset familial Alzheimer disease, a search for tau gene mutations may be appropriate, as illustrated by the following case.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics
  • Humans
  • Introns / genetics
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Mutation / physiology
  • Phenotype
  • Presenilin-1 / genetics
  • tau Proteins / genetics*

Substances

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