title: An African American family with early-onset Alzheimer disease and an APP (T714I) mutation.
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.
authors.affiliation: Department of Neurology,Harbor-UCLA Medical Center, Torrance, USA.
authors.forename: T
authors.initials: T
authors.lastname: Edwards-Lee
authors.forename: J M
authors.initials: JM
authors.lastname: Ringman
authors.forename: J
authors.initials: J
authors.lastname: Chung
authors.forename: J
authors.initials: J
authors.lastname: Werner
authors.forename: A
authors.initials: A
authors.lastname: Morgan
authors.forename: P
authors.initials: P
authors.lastname: St George Hyslop
authors.forename: P
authors.initials: P
authors.lastname: Thompson
authors.forename: R
authors.initials: R
authors.lastname: Dutton
authors.forename: A
authors.initials: A
authors.lastname: Mlikotic
authors.forename: E
authors.initials: E
authors.lastname: Rogaeva
authors.forename: J
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics*; D017668:Age of Onset; D019943:Amino Acid Substitution; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation
chemical_list: D016564:Amyloid beta-Protein Precursor