An African American family with early-onset Alzheimer disease and an APP (T714I) mutation.
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.
Edwards-Lee
T
T
Department of Neurology,Harbor-UCLA Medical Center, Torrance, USA.
Ringman
J M
JM
Chung
J
J
Werner
J
J
Morgan
A
A
St George Hyslop
P
P
Thompson
P
P
Dutton
R
R
Mlikotic
A
A
Rogaeva
E
E
Hardy
J
J
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
D016564:Amyloid beta-Protein Precursor