Mutations

PSEN-2

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.

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Search Results

PSEN2 (90)

Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
T18M
AD : Benign, PD : Not Classified Substitution Substitution | Missense Coding Exon 4

Unknown.

Unknown; predicted pathogenic in silico (CADD>20).

Blauwendraat et al., 2016
A23A
AD : Benign Substitution Substitution | Silent Coding Exon 4

Unknown.

Unknown, but in silico algorithm predicted non-deleterious (CADD = 5.75).

Eryilmaz et al., 2021
R29H
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 4

Not applicable.

Unknown.

Guerreiro et al., 2010
G34S
AD : Benign Substitution Substitution | Missense Coding Exon 4

Unknown, but in one case, brain MRI showed multiple ischemic foci of the bilateral frontal-parietal lobe and brain atrophy.

Unchanged Aβ42/Aβ40 ratio.

Sleegers et al., 2004
N43N
AD : Benign Substitution Substitution | Silent Coding Exon 4

Unknown.

Unknown.

Eryilmaz et al., 2021
R62C
AD : Benign Substitution Substitution | Missense Coding Exon 5

Unknown. 

Reduced levels of CSF Aβ43 and Aβ42, and increased Aβ40; decreased Aβ42/Aβ40 ratio in one carrier.

Sleegers et al., 2004
R62H
AD : Benign, FTD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown. In two carriers, CSF biomarker levels were variable.

In two carriers, CSF Aβ peptide levels were variable. In cells, unchanged Aβ42/Aβ40 ratio; unchanged Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF.

Cruts et al., 1998;
Gallo et al., 2010
C65Y
svPPA : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown. In one case, CSF biomarkers (Aβ42, tau, and phospho-tau) were inconsistent with AD.

Unknown. In silico predictions were mixed (PHRED-scaled CADD = 19.4).

Ramos-Campoy et al., 2020
P69A
AD : Benign Substitution Substitution | Missense Coding Exon 5

Unknown.

Unknown, but scored low for deleteriousness in silico (PHRED-scaled CADD <20).

Dobricic et al., 2012
R71W
AD : Benign Substitution Substitution | Missense Coding Exon 5

Leukoencephalopathy with periventricular white-matter lacunar infarctions.

Unchanged Aβ42/Aβ40 ratio; Reduces the stability of the presenilin-2 protein and impairs Notch signaling.

Sleegers et al., 2004
L79P
AD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown, but CSF biomarkers consistent with AD.

Unknown, but some in silico algorithms predicted damaging (PHRED-scaled CADD>20).

Ramos-Campoy et al., 2020
K82R
AD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown; neuroimaging showed diffuse cortical atrophy, especially in the posterior region and mild hippocampal atrophy. FDG-PET showed widespread hypometabolism. PIB-PET showed amyloid deposition in the frontal lobe, lateral temporal lobe, parietal lobe, posterior cingulate cortex, precuneus, and striatum.

 

Aβ42/Aβ40 ratio, and Aβ42 and Aβ40 secretion similar to control in cellular assay.

Shi et al., 2015
K82fs
Tauopathy consistent with Pick's Disease : Not Classified Deletion Deletion | Frame Shift Coding Exon 5

Neuropathology consistent with Pick's disease.

Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus.

Perrone et al., 2018
A85V
AD : Benign, DLB : Not Classified Substitution Substitution | Missense Coding Exon 5

In one carrier: amyloid deposition; neurofibrillary changes; diffuse Lewy bodies in the neocortex. 

No detectable effect on Aβ40 and Aβ42 secretion, nor the Aβ42/Aβ40 ratio in transfected cells.

Piscopo et al., 2008
I100I
AD : Likely Benign Substitution Substitution | Silent Coding Exon 5

Unknown.

Unknown, but predicted benign in silico (PHRED-scaled CADD score = 6.52).

Wang et al., 2023
V101M
AD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown.

Unknown; predicted probably damaging in silico.

Sala Frigerio et al., 2015
K115Efs*
(K115Efx10)
AD : Uncertain Significance Deletion Splicing Alteration | Frame Shift Coding Exon 5

Neuropathology was consistent with AD.

The deletion of two nucleotides from exon 5 leads to a frameshift and ultimately to a premature stop codon in exon 6. In patient fibroblasts, secretion of Aβ40 was decreased, and Aβ38 and Aβ42 were undetectable. Wild-type PSEN2 levels were also decreased. Alternatively spliced transcripts of the mutant allele were detected in brain.

Jayadev et al., 2010
G117Ter
(G117X)
AD : Not Classified Substitution Substitution | Nonsense Coding Exon 5

Unknown

Unknown, but in silico prediction of deleteriousness was high (CADD = 40).

Mao et al., 2021
T122P
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 6

Unknown.

Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF.

Finckh et al., 2000
T122R
Atypical Dementia : Not Classified Substitution Substitution | Missense Coding Exon 6

Variable cortical and subcortical atrophy.

Reduced calcium ion released from intracellular stores.

Binetti et al., 2003
P123L
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown; Neuroimaging showed diffuse cortical atrophy, predominantly in the right hemisphere. FDG-PET showed hypoperfusion in the right temporal and parietal regions.

Increased Aβ42 and decreased Aβ40 secretion in cells, resulting in an approximately 2-fold increase in the Aβ42/Aβ40 ratio.

Xia et al., 2015
E126K
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown.

Unknown; predicted probably damaging in silico (PHRED-scaled CADD >20).

Müller et al., 2014
E126fs
AD : Not Classified Insertion Insertion | Frame Shift Coding Exon 6

Unknown; neuroimaging showed hippocampal and parahippocampal atrophy.

Reduced Aβ42 and Aβ40 secretion, as well as the Aβ42/Aβ40 ratio in a cellular assay.

El Kadmiri et al., 2014
S130L
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 6

Neuropathology consistent with AD at autopsy in at least one case. Reduced CSF Aβ43/Aβ40 and Aβ42/Aβ40 ratios in another case, with slightly elevated tau and normal phospho-tau CSF levels.

In transfected cells, unchanged Aβ42/Aβ40 ratio, Aβ42, PSEN2-CTF, and PSEN2-NTF. Altered calcium signaling in cells.

 

 

Sorbi et al., 2002;
Tedde et al., 2003
L135R
FTD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but PHRED-scaled CADD score was above 20 suggesting a damaging effect.

Koriath et al., 2018
V139M
AD : Benign Substitution Substitution | Missense Coding Exon 6

Bilateral hypoperfusion in the parietal-temporal lobes.

In transfected cells, Aβ42 and Aβ40 levels, as well as Aβ42/Aβ40 ratio, were not significantly different from control.

Bernardi et al., 2008
N141Y
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 6

Proband had autopsy-confirmed AD with severe brain atrophy and numerous plaques and neurofibrillary tangles.

Unknown; predicted damaging in silico.

Niu et al., 2014
N141D
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but 3 algorithms predict damaging with a PHRED CADD score of 24.9. 

Wang et al., 2019
N141I
AD : Pathogenic Substitution Splicing Alteration; Substitution | Deletion; Missense Coding Exon 6

Extensive amyloid plaques; Extensive neurofibrillary tangles (typically a Braak score of V or VI); α-synuclein inclusions, especially in the amygdala; Rare TDP-43 pathology; Hippocampal sclerosis.

Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in PSEN2-CTF and PSEN2-NTF. Altered microglial phenotype. In 3-D brain organoids, elevated Aβ42/Aβ40 ratio, asynchronous calcium transients, and neuronal hyperactivity. Cytokine overproduction in mice. Exon 6 skipping in ~10% of mutated transcripts, reduced mRNA stability.

 

Levy-Lahad et al., 1995;
Rogaev et al., 1995;
Morales et al., 2024
N141S
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown.

Unknown, but in silico algorithms predicted damaging (CADD > 20).

Mao et al., 2021
L143H
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Not applicable.

Unknown, but in silico analysis predicts a deleterious effect (PHRED-scaled CADD > 20).

Guerreiro et al., 2010
I146T
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but predicted damaging in silico (CADD > 20).

Mao et al., 2021
S147N
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but in silico analyses predicted damaging (CADD>20).

Mao et al., 2021
V148I
AD : Benign Substitution Substitution | Missense Coding Exon 6

Unknown.

Unchanged Aβ42/Aβ40 ratio; unchanged Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF.

Lao et al., 1998
I149T
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but in silico analysis predicts a damaging effect (PHRED-scaled CADD >20).

Perrone et al., 2020
V150M
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but predicted damaging in silico (PHRED-scaled CADD score >20).

Gao et al., 2019
T153S
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but in silico analysis suggests damaging effect (PHRED-scaled CADD score =25.9).

 

Perrone et al., 2020
K161R
AD : Not Classified Substitution Substitution | Missense Coding Exon 6

Unknown.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score = 32).

Wallon et al., 2012
R163C
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 6

Unknown

Unknown, but predicted damaging by in silico algorithms.

Gao et al., 2019
R163H
AD : Benign Substitution Substitution | Missense Coding Exon 6

Not applicable.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score > 20).

Puschmann et al., 2009
H169N
AD : Uncertain Significance, FTD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown; neuroimaging showed mild atrophy and widespread hypometabolism. PIB-PET showed amyloid deposition in the AD case, but no amyloid deposition in the FTD case.

Unknown.

Shi et al., 2015
M174V
AD : Benign Substitution Substitution | Missense Coding Exon 7

Unknown; imaging has shown frontal atrophy and hypoperfusion in temporoparietal regions.

Decreased Aβ40 modestly without significantly changing the Aβ42/Aβ40 ratio in a cell assay.

Andreoli et al., 2008;
Clarimón et al., 2008;
Guerreiro et al., 2010
M174I
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Neuropathology consistent with AD. 

Unknown, but in silico algorithm predicted damaging (PHRED-scaled CADD > 20).

Wong et al., 2020
S175F
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown, but in one case brain imaging showed atrophy and hypometabolism consistent with AD.

Unknown, but multiple in silico algorithms suggest it is damaging.

Guven et al., 2021
S175C
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown; MRI showed focal atrophy in the medial temporal lobe; SPECT showed bilateral hypoperfusion in temporoparietal regions.

Unknown, but in silico analyses predicted a damaging effect (PHRED-scaled CADD score > 20).

Piscopo et al., 2010
F183S
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score >20). 

Wojtas et al., 2012
Y195C
FTD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown

Unknown, but the PHRED-scaled CADD score was > 20 suggesting a damaging effect.

Koriath et al., 2018
G212V
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Neuropathology consistent with AD.

Unknown; predicted pathogenic in silico (PHRED-scaled CADD score = 27.7).

Marín-Muñoz et al., 2016
V214L
AD : Benign Substitution Substitution | Missense Coding Exon 8

Unknown; neuroimaging showed diffuse cortical atrophy and widespread hypometabolism.

Unknown; structural changes were predicted in silico, especially at amino acids 214, 219, and 220. PolyPhen2 predicted a probably or possibly damaging effect; PHRED-scaled CADD score = 24.3.

Youn et al., 2014
H220Y
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown

Unknown, but in silico algorithms predict damaging (CADD > 20).

Mao et al., 2021
L225P
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown.

Unknown, but PHRED-scaled CADD score was above 20, suggesting a damaging effect.

Koriath et al., 2018
Q228L
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score >20).

Zekanowski et al., 2003
Y231C
FTD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown; MRI showed diffuse subcortical and cortical atrophy, particularly in the frontotemporoparietal lobes.

Unknown but in silico analysis predicted a damaging effect (PHRED-scaled CADD score = 27.8).

Marcon et al., 2009
I235F
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown.

Increased Aβ42/Aβ40 ratio in cells.

Lee et al., 2014
S236S
AD : Benign Substitution Splicing Alteration | Silent Coding Exon 8

Unknown, but in one patient PET showed amyloid deposition and MRI revealed atrophy in temporo-insular cortices. FDG-PET showed diffuse hypometabolism in the cortex and striatum.

Unknown. In silico analyis predicted it is benign (PHRED-scaled CADD = 7.2), but could alter splicing.

Coppola et al., 2020
A237V
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Neuropathology consistent with AD.

Unknown; predicted possibly damaging in silico.

Sassi et al., 2014
L238F
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Unknown.

Increased Aβ42/Aβ40 ratio in cellular assay.

Sala Frigerio et al., 2015
L238P
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Unknown; MRI showed supratentorial cortical atrophy, particularly atrophy of the parietal cortex.

Unknown; predicted damaging in silico (PHRED-scaled CADD score = 26.7).

Blauwendraat et al., 2016
M239V
AD : Pathogenic Substitution Substitution | Missense Coding Exon 8

Diffuse cerebral atrophy; Senile plaques; Neurofibrillary tangles (stage VI of Braak and Braak); Ectopic neurons in the subcortical white matter; Extracellular "ghost" neurofibrillary tangles.

Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF.

Rogaev et al., 1995
M239T
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Unknown, but florbetapir-PET indicated amyloid accumulation in one carrier and CSF biomarkers were consistent with AD in another. Atrophy of the parietal lobe was observed in both patients, with one of them also having occipital cortex atrophy. In the latter patient, FDG-PET suggested hypometabolism in parietal, temporal, and occipital cortices. 

Unknown, but in silico algorithms predicted deleterious (PHRED-scaled CADD score > 20).

Li et al., 2021;
Jiao et al., 2021;
Mao et al., 2021
M239I
AD : Pathogenic Substitution Substitution | Missense Coding Exon 8

Moderate cortical atrophy; Numerous neurofibrillary tangles; Numerous senile plaques, especially in the amygdala.

Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF; Reduced calcium release.

Finckh et al., 2000
A252T
AD : Benign Substitution Substitution | Missense Coding Exon 8

Not applicable.

Decreased Aβ42 and Aβ40 in cells, without altering Aβ42/Aβ40 ratio.

Guerreiro et al., 2010
A258T
AD : Benign Substitution Substitution | Missense Coding Exon 8

Not applicable.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD = 26.8).

Sala Frigerio et al., 2015
A258V
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown

Reduced Aβ40 and Aβ42 in a cellular assay without affecting the Aβ42/Aβ40 ratio. 

Yagi et al., 2014
R284G
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 9

Unknown.

Increased Aβ42 and Aβ42/Aβ40 in a cell assay.

Lanoiselée et al., 2017
P287P
AD : Likely Benign Substitution Substitution | Silent Coding Exon 9

Unknown, but associated with increased glucose metabolism in the bilateral fronto-temporo-parietal cortices.

Unknown, but in silico analysis did not predict a damaging effect (PHRED-scaled CADD = 11.4).

Jia et al., 2020
c.887-3C>T
AD : Not Classified Substitution Splicing Alteration | Non-Coding Intron 9

Unknown

Unknown, but in silico analysis does not predict a damaging effect (PHRED-scaled CADD score of 9.977).

Wang et al., 2019
M298T
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 10

Unknown.

Unknown. Some, but not all, in silico algorithms predicted damaging (PHRED-scaled CADD>20).

Wang et al., 2019
T301M
AD : Benign Substitution Substitution | Missense Coding Exon 10

Unknown.

Unchanged Aβ42/Aβ40 ratio.

Croes et al., 2004
K306fs
AD : Not Classified Deletion Deletion | Frame Shift Coding Exon 10

Unknown; neuroimaging in one case showed cortical atrophy.

Unknown; the deletion of a single nucleotide (A) in exon 9 is predicted to result in a frameshift at codon 306.

El Kadmiri et al., 2014
P334A
AD : Benign Substitution Substitution | Missense Coding Exon 11

Not applicable.

Moderately decreased Aβ40 without changing Aβ42/Aβ40 ratio.

Lee et al., 2014
P334R
AD : Benign Substitution Substitution | Missense Coding Exon 11

Not applicable.

Unknown, but predicted not damaging in silico (PHRED-scaled CADD score = 16.3).

Lleó et al., 2002
P348L
AD : Not Classified Substitution Substitution | Missense Coding Exon 11

Unknown.

Decreased Aβ40; increased Aβ42/Aβ40 ratio in cell assay.

Blauwendraat et al., 2016
G359Lfs*74 (Intron 11 delA)
AD : Not Classified, MCI : Not Classified Deletion Splicing Alteration | Deletion; Frame Shift Both Intron 11

Unknown, but MRI of MCI patient revealed mild atrophy in the hippocampus, and SPECT showed decreased metabolism in posterior and temporal cortices.

Deletion of an adenine in intron 11 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Reduced PSEN2 levels due to instability. CADD-PHRED = 23.9.

Perrone et al., 2018
G359Lfs*74 (Intron 11 delAG)
ALS : Not Classified Deletion Splicing Alteration | Deletion; Frame Shift Both Intron 11

Unknown.

Deletion of an adenine in intron 11 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR.

Perrone et al., 2018
I368F
AD : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown

Unknown, but multiple in silico algorithms predicted a damaging effect (PHRED-scaled CADD >20).

Mao et al., 2021
F369S
AD : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown, but MRI in one case showed progressive brain atrophy, particularly in the temporal lobe and hippocampus. 

Unknown, but in silico algorithms predict damaging effect (CADD > 20)

Wan et al., 2021
A377V
AD : Benign Substitution Substitution | Missense Coding Exon 12

Not applicable.

Unknown.

Lee et al., 2014
A379D
AD : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown

Unknown, but predicted damaging in silico. PHREDD CADD score = 27.1

Wang et al., 2019
T388M
bvFTD : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown. CSF biomarker levels (Aβ42, tau, phospho-tau) were not consistent with AD.

Unknown, but multiple in silico algorithms predicted damaging (CADD >20).

Ramos-Campoy et al., 2020
C391R
MCI : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown.

Unknown, but PHRED-scaled CADD = 28.6, suggesting a deleterious effect.

Mathioudakis et al., 2023
V393M
AD : Benign Substitution Substitution | Missense Coding Exon 12

Unknown; bilateral hypometabolism in the parieto-occipital regions.

Unchanged Aβ42/Aβ40 ratio in cells. In one assay, reduced secretion of Aβ4 and Aβ42, in another, Aβ42 secretion was unchanged.

Lindquist et al., 2008
A394Pfs*8
AD : Not Classified Deletion Deletion | Frame Shift Coding Exon 12

Unknown

Unknown

Jiao et al., 2021
A415S
AD : Not Classified Substitution Substitution | Missense Coding Exon 13

Unknown, but MRI revealed global cerebral and cerebellar atrophy. CSF biomarkers were consistent with AD.

Unknown, but in silico algorithm predicted damaging (PHRED-scaled CADD > 20).

Wong et al., 2020
T421M
AD : Benign Substitution Substitution | Missense Coding Exon 13

Unknown

Decreased both Aβ42 and Aβ40, without affecting Aβ42/Aβ40 ratio in cellular assay.

Yagi et al., 2014
T430M
AD : Not Classified Substitution Substitution | Missense Coding Exon 13

Right frontotemporal hypoperfusion.

Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score = 31).

Ezquerra et al., 2003
R435Q
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 13

Unknown.

Unknown, but in silico algorithms predict damaging (PHRED-scaled CADD = 22.1).

P436L
Dementia : Not Classified Substitution Substitution | Missense Coding Exon 13

Unknown, but MRI of one carrier showed bilateral atrophy of the temporal lobe and hippocampus.

Unknown.

Han et al., 2020
D439A
AD : Likely Benign Substitution Substitution | Missense Coding Exon 13

Unknown; imaging showed moderate cortical atrophy in the frontal and parietal regions.

MIxed results in vitro. 

Lleó et al., 2001
c.*71C>A
AD : Likely Pathogenic Substitution Substitution | Non-Coding Exon 13, 3'UTR

Unknown, but MRI scan of one case showed widening of the sulcus, fissure, and temporal horn, with decreased hippocampal volume. Also, FDG-PET showed hypometabolism in the bilateral frontal, parietal, and temporal lobes. Five affected carriers had CSF Aβ42, total tau, and phospho-tau consistent with AD.

Reduction of binding of PSEN2 expression suppressor miR-183-5p, possibly causing increased Aβ42/Aβ40 ratio.

Pang et al., 2021;
Jia et al., 2020