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Table 1 Genes associated with Alzheimer's disease

From: Maternal transmission of Alzheimer's disease: Prodromal metabolic phenotype and the search for genes

Gene Chromosome Transmission AD
form
Prevalence Clinical characteristics In vivoimaging
findings
APP 21 Autosomal
dominant
EOFAD 10-15% of
EOFAD
Age of onset <65 years
Increased processing of
APP to Aβ42
Reduced CMRglc on
FDG-PET in
pre-symptomatic and
symptomatic mutation
carriers
APP 21 Autosomal
recessive
EOFAD na Age of onset <50 years
Increased Aβ production
na
PSEN1 14 Autosomal
dominant
EOFAD 30-70% of
EOFAD
Age of onset 40-50 years
Increased processing of
APP to Aβ42
Rapid progression
Associated with seizures,
myoclonus and language
deficits
Reduced CMRglc on
FDG-PET and striatal
amyloid deposition on
PIB PET in
pre-symptomatic and
symptomatic mutation
carriers
PSEN2 1 Autosomal
dominant
EOFAD <5% of
EOFAD
Age of onset 40-70 years
Increased Aβ42
production
na
ApoE 19 3 allelic
variants: ε2,
ε3, ε4
LOAD 40% of
LOAD,
10-20% of
controls
ApoE ε4 carriers vs
non-carriers show lower
age at onset, reduced Aβ
clearance, poorer
cognitive performance in
late life
Hippocampal atrophy
on MRI and reduced
CMRglc on FDG-PET
in pre-symptomatic and
symptomatic ApoE ε4
carriers vs non-carriers
SORL1 11 SNPs: 8-10
and 22-25
gene regions
LOAD 20-40% of
LOAD
Increased Aβ production Hippocampal atrophy
on MRI in SORL1
carriers vs non-carriers
KIBRA 5 SNP: T → C LOAD 45% of
LOAD
Poorer episodic memory
in CC carriers vs TT and
TC carriers
Increased hippocampal
activation on fMRI, and
reduced CMRglc on
FDG-PET in CC
carriers vs CT and TT
carriers
GAB2 11 6 SNPs LOAD 70% of
LOAD
CT-AAG-
CAGATCAGACG vs
TC-GCA-
TGAGGTGTCTT
haplotype: Less
protection from neuronal
tangle formation and cell
death Increased risk of
AD
na
PCDH11X X SNP:
Rs5984894
LOAD na Increased risk of AD na
  1. EOFAD = early onset familial Alzheimer's disease; CMRglc = cerebral metabolic rate of glucose; na = not available; FDG-PET = fluoro-2-deoxy-D-glucose positron emission tomography; PIB-PET = Pittsburgh Compound-B PET; LOAD = late onset AD; MRI = magnetic resonance imaging.