Journal of Neurology,
Journal Year:
2021,
Volume and Issue:
269(3), P. 1413 - 1421
Published: July 14, 2021
Both
prevalence
and
clinical
features
of
the
various
movement
disorders
in
adults
with
primary
mitochondrial
diseases
are
unknown.Based
on
database
"Nation-wide
Italian
Collaborative
Network
Mitochondrial
Diseases",
we
reviewed
clinical,
genetic,
neuroimaging
neurophysiological
data
adult
patients
(n
=
764)
where
ataxia,
myoclonus
or
other
were
part
phenotype.Ataxia,
present
105/764
(13.7%),
onset
coinciding
preceding
diagnosis
disease
49/105
(46.7%).
Ataxia
parkinsonism
most
represented,
an
overall
at
last
follow-up
59.1%
30.5%,
respectively.
Hyperkinetic
reported
15.3%
follow-up,
being
less
common
disorders.
The
pathogenic
m.8344A
>
G
POLG
variants
always
associated
a
disorder,
while
LHON
mtDNA
single
deletions
more
commonly
found
subjects
who
did
not
disorder.
cortical
and/or
cerebellar
atrophy,
white
matter
hyperintensities,
basal
ganglia
abnormalities
nigro-striatal
degeneration.
Almost
70%
responded
to
dopaminergic
therapy,
mainly
levodopa,
50%
successfully
treated
levetiracetam.Movement
disorders,
ataxia
parkinsonism,
important
findings
diseases.
This
study
underlies
importance
looking
for
etiology
diagnostic
flowchart
disorder
may
help
direct
genetic
screening
daily
practice.
Annals of Neurology,
Journal Year:
2021,
Volume and Issue:
91(2), P. 203 - 216
Published: Dec. 24, 2021
Objective
Randomized
clinical
trials
have
shown
that
aerobic
exercise
attenuates
motor
symptom
progression
in
Parkinson's
disease,
but
the
underlying
neural
mechanisms
are
unclear.
Here,
we
investigated
how
influences
disease‐related
functional
and
structural
changes
corticostriatal
sensorimotor
network,
which
is
involved
emergence
of
deficits
disease.
Additionally,
explored
effects
on
tissue
integrity
substantia
nigra,
behavioral
cerebral
indices
cognitive
control.
Methods
The
Park‐in‐Shape
trial
a
single‐center,
double‐blind
randomized
controlled
130
disease
patients
who
were
randomly
assigned
(1:1
ratio)
to
(stationary
home
trainer)
or
stretching
(active
control)
interventions
(duration
=
6
months).
An
unselected
subset
from
this
(exercise,
n
25;
stretching,
31)
underwent
resting‐state
magnetic
resonance
imaging
(MRI),
an
oculomotor
control
task
(pro‐
antisaccades),
at
baseline
6‐month
follow‐up.
Results
Aerobic
exercise,
not
led
increased
connectivity
anterior
putamen
with
cortex
relative
posterior
putamen.
Behaviorally,
also
improved
Furthermore,
right
frontoparietal
proportionally
fitness
improvements,
it
reduced
global
brain
atrophy.
Interpretation
MRI,
clinical,
results
converge
toward
conclusion
stabilizes
network
enhances
performance.
ANN
NEUROL
2022;91:203–216
Brain Sciences,
Journal Year:
2022,
Volume and Issue:
12(9), P. 1248 - 1248
Published: Sept. 15, 2022
The
limbic
system
describes
a
complex
of
brain
structures
central
for
memory,
learning,
as
well
goal
directed
and
emotional
behavior.
In
addition
to
pathological
studies,
recent
findings
using
in
vivo
structural
functional
imaging
the
pinpoint
vulnerability
neurodegeneration
Parkinson’s
disease
(PD)
throughout
course.
Accordingly,
dysfunction
is
critically
related
symptom
which
characterizes
PD,
including
neuropsychiatric,
vegetative,
motor
symptoms,
their
heterogeneity
patients
with
PD.
aim
this
systematic
review
was
put
spotlight
on
neuroimaging
PD
give
an
overview
most
important
affected
by
disease,
function,
alterations,
corresponding
clinical
manifestations.
PubMed
searched
order
identify
studies
that
investigate
help
methods.
First,
neuropathological
changes
symptoms
each
region
are
reviewed,
and,
finally,
network
integration
within
pathology
discussed.
Brain,
Journal Year:
2023,
Volume and Issue:
147(3), P. 871 - 886
Published: Sept. 27, 2023
Abstract
Dopaminergic
dysfunction
in
the
basal
ganglia,
particularly
posterior
putamen,
is
often
viewed
as
primary
pathological
mechanism
behind
motor
slowing
(i.e.
bradykinesia)
Parkinson’s
disease.
However,
striatal
dopamine
loss
fails
to
account
for
interindividual
differences
phenotype
and
rate
of
decline,
implying
that
expression
symptoms
depends
on
additional
mechanisms,
some
which
may
be
compensatory
nature.
Building
observations
increased
motor-related
activity
parieto-premotor
cortex
Parkinson
patients,
we
tested
hypothesis
clinical
severity
are
determined
by
cortical
mechanisms
not
just
ganglia
dysfunction.
Using
functional
MRI,
measured
variability
motor-
selection-related
brain
during
a
visuomotor
task
353
patients
with
disease
(≤5
years
duration)
60
healthy
controls.
In
this
task,
manipulated
action
selection
demand
varying
number
possible
actions
individuals
could
choose
from.
Clinical
was
characterized
two
ways.
First,
were
categorized
into
three
previously
validated,
discrete
subtypes
hypothesized
reflect
distinct
routes
α-synuclein
propagation:
diffuse-malignant
(n
=
42),
intermediate
128)
or
mild
motor-predominant
150).
Second,
used
scores
bradykinesia
cognitive
performance
across
entire
sample
continuous
measures.
Patients
showed
(longer
response
times)
reduced
compared
did
differ
between
associated
scores.
This
indicates
limited
role
shaping
severity.
Consistent
our
hypothesis,
observed
enhanced
mild-motor
predominant
subtype,
both
subtype
Furthermore,
related
lower
better
performance,
points
role.
We
conclude
compensation,
rather
than
dysfunction,
shapes
symptom
Future
interventions
focus
maintaining
enhancing
only
attempting
normalize
Nature Communications,
Journal Year:
2024,
Volume and Issue:
15(1)
Published: July 5, 2024
Abstract
A
major
challenge
in
Parkinson’s
disease
is
the
variability
symptoms
and
rates
of
progression,
underpinned
by
heterogeneity
pathological
processes.
Biomarkers
are
urgently
needed
for
accurate
diagnosis,
patient
stratification,
monitoring
progression
precise
treatment.
These
were
previously
lacking,
but
recently,
novel
imaging
fluid
biomarkers
have
been
developed.
Here,
we
consider
new
approaches
showing
sensitivity
to
brain
tissue
composition,
examine
specificity
processes,
including
seed
amplification
assays
extracellular
vesicles.
We
reflect
on
these
context
biological
staging
systems,
emerging
techniques
currently
development.
Clinical Case Reports,
Journal Year:
2025,
Volume and Issue:
13(3)
Published: March 1, 2025
Peri-lead
edema
(PLE)
after
deep
brain
stimulation
may
mimic
infection
on
magnetic
resonance
imaging
(MRI).
We
present
a
case
of
symptomatic
PLE
with
annular
contrast
enhancement
MRI
suggestive
an
infectious
cause.
show
that
careful
clinical
evaluation
and
laboratory
testing,
in
addition
to
neuroimaging,
are
essential
guide
treatment
avoid
unnecessary
interventions
cases
favorable
spontaneous
course.
Human Brain Mapping,
Journal Year:
2021,
Volume and Issue:
43(3), P. 1145 - 1156
Published: Nov. 18, 2021
Parkinson's
disease
(PD)
is
a
progressive
neurodegenerative
characterized
by
both
motor
and
non-motor
symptoms.
A
convergent
pathophysiological
hallmark
of
PD
an
early
selective
vulnerability
within
the
basal
ganglia
circuit.
However,
causal
interactions
between
atrophy
structural
network
alterations
in
remain
unaddressed.
Here,
we
adopted
voxel-based
morphometry
method
to
measure
gray
matter
(GM)
volume
for
each
participant
(n
=
84
patients
n
70
matched
healthy
controls).
Patients
were
first
divided
into
three
stages
according
Hoehn
Yahr
(H&Y)
Part
III
Unified
Disease
Rating
Scale
scores
respectively
analyze
stage-specific
GM
patterns.
Then,
modulation
caudate
over
other
brain
structures
was
evaluated
using
whole-brain
voxel-wise
region-of-interest-wise
covariance
approaches.
We
found
that
progressively
expands
from
angular
gyrus,
temporal
areas,
eventually
spreads
through
subcortical-cortical
networks
as
progresses.
Notably,
identified
shared
caudate-associated
degeneration
including
ganglia,
thalamus,
cerebellum,
sensorimotor
cortex,
cortical
association
areas
with
factors.
These
findings
suggest
may
play
pivotal
role
circuits
at
level.
Our
work
provides
evidence
novel
mechanism
underlies
pathology
have
potential
clinical
applications
development
predictors
onset
progress.
npj Parkinson s Disease,
Journal Year:
2022,
Volume and Issue:
8(1)
Published: Sept. 6, 2022
Abstract
Parkinson’s
disease
(PD)
patients
can
be
classified
in
tremor-dominant
(TD)
and
postural-instability-and-gait-disorder
(PIGD)
motor
subtypes.
PIGD
represents
a
more
aggressive
form
of
the
that
TD
have
potentiality
converting
into.
This
study
investigated
functional
alterations
within
cerebro-cerebellar
system
PD-TD
PD-PIGD
using
stepwise
connectivity
(SFC)
analysis
identified
neuroimaging
features
predict
to
conversion.
Thirty-two
PD-TD,
26
60
healthy
controls
performed
clinical/cognitive
evaluations
resting-state
MRI
(fMRI).
Four-year
clinical
follow-up
data
were
available
for
28
patients,
who
10
converters
(cTD-PD)
18
non-converters
(ncTD-PD)
PIGD.
The
cerebellar
seed-region
was
fMRI
task.
SFC
analysis,
characterizing
regions
connect
brain
areas
seed
at
different
levels
link-step
distances,
evaluated
similar
divergent
PD-PIGD.
discriminatory
power
and/or
distinguishing
cPD-TD
from
ncPD-TD
assessed
ROC
curve
analysis.
Compared
showed
decreased
temporal
lobe
occipital
lobes
increased
cortex
ponto-medullary
junction.
Considering
subtype-conversion
characterized
by
cerebellum
junction
relative
group.
Combining
data,
curves
provided
highest
classification
identify
conversion
These
findings
provide
novel
insights
into
pathophysiology
underlying
PD
phenotypes
potential
tool
early
characterization
risk