A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease.
We report a presenilin-1 mutation (T245P) in a Japanese-American family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. The early clinical features were remarkable for their purely amnestic nature. The position of the mutation is in the transmembrane domain that harbors the aspartic acid residue which is believed to be part of the active site of gamma-secretase.
Edwards-Lee
Terri
T
Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, 1124 West Carson Street, Torrance, CA 90502, USA.
Wen
Johnny
J
Bell
Jason
J
Hardy
John
J
Chung
Julia
J
Momeni
Parastoo
P
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D000647:Amnesia / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1; D017434:Protein Structure, Tertiary
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1