A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.
The authors describe a novel missense mutation in the presenilin 2 (PSEN2) gene at residue 439 that predicts an aspartate-to-alanine substitution (D439A). This mutation was found in a 58-year old patient who displayed a progressive dementia at the age of 52. The mutation was absent in his cognitively normal relatives. Haplotype analysis indicated that his affected mother was the most probable mutation carrier. The D439A mutation is located near the C-terminal end of the PS2 protein, a region critical for endoproteolytic processing.
Lleó
A
A
Neurology Service, Hospital Clínic, IDIBAPS, Barcelona, Spain.
Blesa
R
R
Gendre
J
J
Castellví
M
M
Pastor
P
P
Queralt
R
R
Oliva
R
R
D000409:Alanine / Q000235:genetics; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D053766:Presenilin-2; D013030:Spain
D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2; D001224:Aspartic Acid; D000409:Alanine