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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.