Frontiers in Genetics,
Год журнала:
2025,
Номер
16
Опубликована: Май 26, 2025
Mild
cognitive
impairment
(MCI)
represents
an
initial
phase
of
memory
or
other
function
decline
and
is
viewed
as
intermediary
stage
between
normal
aging
Alzheimer’s
disease
(AD),
the
most
prevalent
type
dementia.
Individuals
with
MCI
face
a
heightened
risk
progressing
to
AD,
early
detection
can
facilitate
prevention
such
progression
through
timely
interventions.
Nonetheless,
diagnosing
challenging
because
its
symptoms
be
subtle
are
easily
missed.
Using
genomic
data
from
blood
samples
has
been
proposed
non-invasive
cost-efficient
approach
build
machine
learning
predictive
models
for
assisting
diagnosis.
However,
these
often
exhibit
poor
performance.
In
this
study,
we
developed
XGBoost-based
model
AUC
(the
Area
Under
receiver
operating
characteristic
Curve)
0.9398
utilizing
gene
expression
copy
number
variation
(CNV)
patient
samples.
We
demonstrated,
first
time,
that
at
genome
structure
level
CNVs
could
informative
classify
patients
controls.
identified
149
features
important
prediction.
Notably,
enriched
in
pathways
associated
neurodegenerative
diseases,
neuron
development
G
protein-coupled
receptor
activity.
Overall,
our
study
not
only
demonstrates
effectiveness
sample-based
multi-omics
predicting
MCI,
but
also
provides
insights
into
crucial
molecular
characteristics
MCI.
New England Journal of Medicine,
Год журнала:
2024,
Номер
390(8), С. 712 - 722
Опубликована: Фев. 21, 2024
Biomarker
changes
that
occur
in
the
period
between
normal
cognition
and
diagnosis
of
sporadic
Alzheimer's
disease
have
not
been
extensively
investigated
longitudinal
studies.
Machine Learning and Knowledge Extraction,
Год журнала:
2024,
Номер
6(1), С. 464 - 505
Опубликована: Фев. 21, 2024
Alzheimer’s
disease
(AD)
is
a
pressing
global
issue,
demanding
effective
diagnostic
approaches.
This
systematic
review
surveys
the
recent
literature
(2018
onwards)
to
illuminate
current
landscape
of
AD
detection
via
deep
learning.
Focusing
on
neuroimaging,
this
study
explores
single-
and
multi-modality
investigations,
delving
into
biomarkers,
features,
preprocessing
techniques.
Various
models,
including
convolutional
neural
networks
(CNNs),
recurrent
(RNNs),
generative
are
evaluated
for
their
performance.
Challenges
such
as
limited
datasets
training
procedures
persist.
Emphasis
placed
need
differentiate
from
similar
brain
patterns,
necessitating
discriminative
feature
representations.
highlights
learning’s
potential
limitations
in
detection,
underscoring
dataset
importance.
Future
directions
involve
benchmark
platform
development
streamlined
comparisons.
In
conclusion,
while
learning
holds
promise
accurate
refining
models
methods
crucial
tackle
challenges
enhance
precision.
Alzheimer s & Dementia,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 14, 2025
Limbic
predominant
age-related
TDP-43
encephalopathy
neuropathologic
change
(LATE-NC)
is
highly
prevalent
in
late
life
and
a
common
co-pathology
with
Alzheimer's
disease
(ADNC).
LATE-NC
slowly
progressive,
amnestic
clinical
syndrome.
Alternatively,
when
present
ADNC,
associated
more
rapid
course.
With
the
emergence
of
anti-amyloid
therapeutics,
discrimination
from
ADNC
critical
will
lead
to
greater
recognition
patients
without
ADNC.
Furthermore,
may
influence
outcomes
these
therapeutics.
Thus
there
need
identify
during
likely
LATE-NC.
We
propose
criteria
for
diagnosis
LATE
as
an
initial
framework
further
validation.
In
context
progressive
memory
loss
substantial
hippocampal
atrophy,
are
laid
out
probable
(amyloid
negative)
or
possible
biomarkers
unavailable
amyloid
present,
but
neurodegeneration
proportion
expected
pure
ADNC).
HIGHLIGHTS:
Limbic-predominant
(LATE)
driver
life.
neuropathic
(ADNC)
emerging
disease-modifying
medicines.
provide
diagnosing
either
primary
symptoms
observed
conjunction
AD.
Definitions
provided.
Alzheimer s & Dementia,
Год журнала:
2023,
Номер
20(1), С. 652 - 694
Опубликована: Сен. 12, 2023
The
Alzheimer's
Disease
Neuroimaging
Initiative
(ADNI)
aims
to
improve
disease
(AD)
clinical
trials.
Since
2006,
ADNI
has
shared
clinical,
neuroimaging,
and
cognitive
data,
biofluid
samples.
We
used
conventional
search
methods
identify
1459
publications
from
2021
2022
using
data/samples
reviewed
291
impactful
studies.
This
review
details
how
studies
improved
progression
understanding
trial
efficiency.
Advances
in
subject
selection,
detection
of
treatment
effects,
harmonization,
modeling
trials
plasma
biomarkers
like
phosphorylated
tau
showed
promise
for
use.
Biomarkers
amyloid
beta,
tau,
neurodegeneration,
inflammation,
others
were
prognostic
with
individualized
prediction
algorithms
available
online.
Studies
supported
the
cascade,
emphasized
importance
neuroinflammation,
detailed
widespread
heterogeneity
disease,
linked
genetic
vascular
risk,
co-pathologies,
sex,
resilience.
Biological
subtypes
consistently
observed.
Generalizability
results
is
limited
by
lack
cohort
diversity,
an
issue
ADNI-4
address
enrolling
a
diverse
cohort.
Alzheimer s & Dementia,
Год журнала:
2024,
Номер
20(7), С. 4583 - 4593
Опубликована: Июнь 12, 2024
Mild
cognitive
impairment
(MCI)
heightens
Alzheimer's
disease
(AD)
risk,
with
diabetes
mellitus
(DM)
potentially
exacerbating
this
vulnerability.
This
study
identifies
the
optimal
intervention
period
and
neurobiological
targets
in
MCI
to
AD
progression
using
Disease
Neuroimaging
Initiative
dataset.
Alzheimer s & Dementia,
Год журнала:
2024,
Номер
20(11), С. 8172 - 8182
Опубликована: Сен. 23, 2024
Abstract
Early
diagnosis
is
crucial
to
treatment
success.
This
especially
relevant
for
Alzheimer's
disease
(AD),
with
its
protracted
preclinical
phase.
Most
health
care
systems
do
not
have
the
resources
conduct
large‐scale
AD
screenings
in
middle‐aged
individuals
need
of
novel
options
and
early,
accurate
diagnosis.
Recent
developments
blood‐based
biomarkers
remote
cognitive
testing
offer
novel,
cost‐effective,
scalable
methods
detect
biomarker
changes
that
may
indicate
early
AD.
In
research
cohorts,
promising
results
been
reported,
but
these
modalities
validated
population‐based
settings.
The
validation
a
realistic
screening
approach
(REAL
AD)
study
aims
validate
diagnostic
prognostic
performance
combined
use
as
employing
an
existing
infrastructure
(the
Swedish
Västra
Götaland
Region
Primary
Healthcare).
REAL
provide
concrete,
individualized
framework,
which
could
significantly
improve
prognosis.
Highlights
Sweden,
most
(AD)
diagnoses
are
made
primary
care,
where
access
almost
non‐existent.
limited
adults
evidence
pathology.
Blood‐based
detecting
Sweden.
Studies
such
will
play
vital
role
helping
move
field
toward
concrete
implementation
workup
at
all
levels,
eventually
providing
more
comprehensive
treatments
large
growing
population,
those
risk.
In
China,
the
aging
population
and
increasing
incidence
of
Alzheimer's
disease
(AD)
other
dementias
have
emerged
as
major
medical
concerns.
Extensive
research
new
technologies
on
AD
provided
possibilities
for
early
intervention,
including
emerging
biomarkers
detection
drugs
with
disease-modifying
therapy.
This
report
includes
a
large
amount
facts
figures
to
describe
understanding
patients
their
families
about
disease,
discuss
problems
they
encounter
in
current
environment,
outline
potential
difficulties
clinical
diagnosis
treatment
status.
Furthermore,
people’s
concerns,
overall
effect
caregivers,
development
are
presented
this
report.
Overall,
increase
public
awareness
suggests
detection,
screening,
intervention
while
calling
all
sectors
work
together
help
patients.
Alzheimer s & Dementia,
Год журнала:
2024,
Номер
unknown
Опубликована: Сен. 11, 2024
Abstract
The
magnetic
resonance
imaging
(MRI)
Core
has
been
operating
since
Alzheimer's
Disease
Neuroimaging
Initiative's
(ADNI)
inception,
providing
20
years
of
data
including
reliable,
multi‐platform
standardized
protocols,
carefully
curated
image
data,
and
quantitative
measures
provided
by
expert
investigators.
overarching
purposes
the
MRI
include:
(1)
optimizing
standardizing
acquisition
methods,
which
have
adopted
many
multicenter
studies
trials
worldwide
(2)
images
numeric
summary
values
from
relevant
sequences/contrasts
to
scientific
community.
Over
time,
ADNI
become
increasingly
complex.
To
remain
technically
current,
protocol
changed
substantially
over
past
two
decades.
4
contains
nine
different
types
(e.g.,
three
dimensional
[3D]
T1‐weighted
fluid‐attenuated
inversion
recovery
[FLAIR]).
Our
view
is
that
are
a
greatly
underutilized
resource.
purpose
this
paper
educate
community
on
methods
content
promote
greater
awareness,
accessibility,
use.
Highlights
provides
analysis
groups.
undergone
major
changes
decades
current.
As
April
25,
2024,
following
numbers
series
available:
17,141
3D
T1w;
6877
FLAIR;
3140
T2/PD;
6623
GRE;
3237
dMRI;
2846
ASL;
2968
TF‐fMRI;
2861
HighResHippo
(see
Table
1
for
abbreviations).
analyses
FreeSurfer
10,997;
BSI
6120;
tensor
based
morphometry
(TBM)
TBM‐SYN
12,019;
WMH
9944;
dMRI
1913;
ASL
925;
TF‐fMRI
NFQ
2992;
medial
temporal
subregion
volumes
2726
an
resource
could
be
more
useful
research
Frontiers in Aging Neuroscience,
Год журнала:
2024,
Номер
16
Опубликована: Авг. 21, 2024
Introduction
Alzheimer’s
disease
(AD),
a
major
cause
of
dementia
globally,
imposes
significant
societal
and
personal
costs.
This
review
explores
the
efficacy
physical
exercise
as
non-pharmacological
intervention
to
mitigate
impacts
AD.
Methods
draws
on
recent
studies
that
investigate
effects
neuroinflammation
neuronal
enhancement
in
individuals
with
Results
Consistent
alters
neuroinflammatory
pathways,
enhances
cognitive
functions,
bolsters
brain
health
among
AD
patients.
It
favorably
influences
activation
states
microglia
astrocytes,
fortifies
integrity
blood-brain
barrier,
attenuates
gut
inflammation
associated
These
changes
are
substantial
improvements
performance
indicators.
Discussion
The
findings
underscore
potential
integrating
into
comprehensive
management
strategies.
Emphasizing
necessity
for
further
research,
this
advocates
refinement
regimens
maximize
their
enduring
benefits
decelerating
progression