Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.
Since the report of a double mutation at codons 670 and 671 of the amyloid precursor protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's disease (AD), a carrier with dementia has died. Neuropathology confirmed the clinical diagnosis of AD. Genealogical investigations have confirmed that the two families are related to common founders. Two-point linkage analysis of the mutation versus the disease in the revised pedigree now gives a lod score of 7.62.
Lannfelt
L
L
Bogdanovic
N
N
Appelgren
H
H
Axelman
K
K
Lilius
L
L
Hansson
G
G
Schenk
D
D
Hardy
J
J
Winblad
B
B
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D009928:Organ Specificity; D013548:Sweden
D016564:Amyloid beta-Protein Precursor