An African American family with early-onset Alzheimer disease and an APP (T714I) mutation

Neurology. 2005 Jan 25;64(2):377-9. doi: 10.1212/01.WNL.0000149761.70566.3E.

Abstract

The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Amyloid beta-Protein Precursor / genetics*
  • Black or African American / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Point Mutation*

Substances

  • Amyloid beta-Protein Precursor