Journal of Parkinson s Disease,
Год журнала:
2024,
Номер
14(8), С. 1584 - 1593
Опубликована: Ноя. 4, 2024
Background
Compensatory
mechanisms
in
Parkinson's
disease
(PD)
are
thought
to
explain
the
temporal
delay
between
beginning
of
neurodegenerative
process
and
appearance
clinical
signs.
The
enhanced
structural
integrity
corticospinal
tract
was
previously
suggested
as
one
these
mechanisms.
Objective
To
understand
relations
anatomical,
clinical,
electrophysiological,
genetic
PD
characteristics.
Methods
We
analyzed
diffusion
tensor
imaging
(DTI)
fractional
anisotropy
(FA)
data
from
40
genotyped
patients
with
(18
without
known
cause,
11
LRRK2-PD
GBA-PD)
who
were
candidates
for
subthalamic
deep
brain
stimulation
(STN-DBS)
25
healthy,
age-matched,
controls.
Results
is
associated
higher
FA
values
(p
<
0.001)
that
negatively
correlated
duration
=
0.032),
confirming
previous
results.
Higher
cerebral
grey
matter
volumes
but
not
motor
or
cognitive
characteristics,
beta-oscillatory
activity
measured
intra-operatively.
Increased
strongly
affected
by
etiology
PD,
monogenic
forms
0.001).
compensatory
index,
calculated
dividing
corticostriatal
value
volume,
highest
GBA-PD
at
time
evaluation
STN-DBS.
Conclusions
shapes
changes
along
disease-duration
atrophy.
may
serve
mechanism.
Brain,
Год журнала:
2023,
Номер
147(3), С. 900 - 910
Опубликована: Сен. 25, 2023
Abstract
The
most
common
genetic
risk
factors
for
Parkinson’s
disease
are
GBA1
mutations,
encoding
the
lysosomal
enzyme
glucocerebrosidase.
Patients
with
mutations
(GBA-PD)
exhibit
earlier
age
of
onset
and
faster
progression
more
severe
cognitive
impairments,
postural
instability
gait
problems.
These
GBA-PD
features
suggest
cholinergic
system
pathologies.
PET
imaging
vesicular
acetylcholine
transporter
ligand
18F-F-fluoroethoxybenzovesamicol
(18F-FEOBV
PET)
provides
opportunity
to
investigate
changes
their
relationship
clinical
in
GBA-PD.
study
investigated
123
newly
diagnosed,
treatment-naïve
subjects—with
confirmed
presynaptic
dopaminergic
deficits
on
imaging.
Whole-gene
sequencing
saliva
samples
was
performed
evaluate
variants.
underwent
extensive
neuropsychological
assessment
all
domains,
motor
evaluation
Unified
Disease
Rating
Scale,
brain
MRI,
measure
striatal-to-occipital
ratios
putamen
18F-FEOBV
PET.
We
differences
regional
innervation
between
carriers
non-GBA1
mutation
(non-GBA-PD),
using
voxel-wise
volume
interest-based
approaches.
degree
overlap
t-maps
from
two-sample
t-test
models
quantified
Dice
similarity
coefficient.
Seventeen
(13.8%)
subjects
had
a
mutation.
No
significant
were
found
non-GBA-PD
at
diagnosis.
Lower
binding
both
groups
compared
controls.
(P
<
0.05,
cluster
size
100)
showed
good
(0.7326)
maps.
patients
widespread
reduction
than
when
controls
occipital,
parietal,
temporal
frontal
cortices
FDR-corrected).
In
interest
analyses
(Bonferroni
corrected),
left
parahippocampal
gyrus
affected
De
novo
show
distinct
topography
terminal
binding.
Although
not
distinguishable
clinically,
comparison
healthy
controls,
denervation
non-GBA-PD.
A
larger
group
is
needed
validate
these
findings.
Our
results
that
de
differential
patterns
before
phenotypic
versus
non-carrier
observable.
Annals of Neurology,
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 16, 2025
Objective
The
phenotype
of
patients
with
Parkinson's
disease
carrying
GBA
1
variants
(GBA‐PD)
suggest
similarities
to
symptomatology
associated
early
cholinergic
system
degeneration.
Therefore,
this
study
aims
investigate
the
clinical
features
and
innervation
pattern
in
GBA‐PD
versus
those
without
GBA1
mutation
(non‐GBA‐PD).
Methods
A
total
46
104
non‐GBA‐PD
subjects
were
included.
Clinical
assessments
included
motor
non‐motor
evaluation,
as
well
a
comprehensive
neuropsychological
examination.
Cholinergic
integrity
was
assessed
using
8
F‐Fluoroethoxybenzovesamicol
(
18
F‐FEOBV)
positron
emission
tomography
(PET)
differences
between
non‐GBA‐PD.
Given
higher
prevalence
females
GBA‐PD,
analyses
repeated
when
stratified
by
sex.
Additionally,
we
examined
association
cognitive
domains
whole‐brain
binding
both
groups.
Exploratory
F‐FEOBV
among
variants.
Results
exhibited
burden
symptoms
lower
performance
on
executive
functions
attention.
We
observed
more
pronounced
denervation
compared
non‐GBA‐PD,
primarily
anterior,
central,
limbic
regions.
However,
distribution
loss
its
attention
dysfunction
comparable
In
addition,
presentation
differed
significantly
sexes.
Interpretation
These
results
an
important
role
patients,
which
is
related
severe
dysfunction.
ANN
NEUROL
2025
Brain Sciences,
Год журнала:
2024,
Номер
14(6), С. 610 - 610
Опубликована: Июнь 18, 2024
Alcohol
misuse
is
associated
with
altered
punishment
and
reward
processing.
Here,
we
investigated
neural
network
responses
to
the
molecular
profiles
of
connectivity
features
predicting
alcohol
use
severity
in
young
adults.
We
curated
Human
Connectome
Project
data
employed
connectome-based
predictive
modeling
(CPM)
examine
how
functional
(FC)
during
wins
losses
are
severity,
quantified
by
Semi-Structured
Assessment
for
Genetics
Alcoholism,
981
combined
CPM
findings
JuSpace
toolbox
characterize
severity.
The
connectomics
appeared
specific,
comprising
less
than
0.12%
all
features,
including
medial
frontal,
motor/sensory,
cerebellum/brainstem
networks
processing
fronto-parietal,
motor/sensory
Spatial
correlation
analyses
showed
that
these
were
predominantly
serotonergic
GABAa
signaling.
To
conclude,
a
distinct
pattern
predicted
adult
drinkers.
These
“neural
fingerprints”
elucidate
impacts
brain
provide
evidence
new
targets
future
intervention.
Neurobiology of Disease,
Год журнала:
2024,
Номер
197, С. 106527 - 106527
Опубликована: Май 11, 2024
Neurotransmitter
deficits
and
spatial
associations
among
neurotransmitter
distribution,
brain
activity,
clinical
features
in
Parkinson's
disease
(PD)
remain
unclear.
Better
understanding
of
impairments
PD
may
provide
potential
therapeutic
targets.
Therefore,
we
aimed
to
investigate
the
relationship
between
PD-related
patterns
deficits.
