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Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model.
[cadasil]
Small
vessel
disease
(
SVD
)
of
the
brain
is
a
leading
cause
of
age-
and
hypertension
-related
cognitive
decline
and
disability
.
Cerebral
white
matter
changes
are
a
consistent
manifestation
of
SVD
on
neuroimaging
,
progressing
silently
for
many
years
before
becoming
clinically
evident
.
The
pathogenesis
of
these
changes
remains
poorly
understood
,
despite
their
importance
.
In
particular
,
their
pathological
correlate
at
early
stages
remains
largely
undefined
.
Cerebral
Autosomal
Dominant
Arteriopathy
with
Subcortical
Infarcts
and
Leukoencephalopathy
(
CADASIL
)
,
caused
by
dominant
mutations
of
the
NOTCH
3
receptor
,
is
regarded
as
a
paradigm
for
the
most
common
form
of
sporadic
SVD
.
In
this
study
,
we
used
immunohistochemistry
,
confocal
microscopy
and
electron
microscopy
,
together
with
qualitative
and
quantitative
analyses
to
assess
oligodendroglial
,
axon
and
myelin
damage
in
TgPAC-Notch
3
R
169
C
mice
,
a
model
of
preclinical
CADASIL
.
The
principal
cerebral
white
matter
changes
in
TgPAC-Notch
3
R
169
C
mice
are
microvacuoles
(
≤
1
μm
diameter
)
in
the
myelin
sheaths
associated
with
focal
myelin
degradation
and
occurring
in
the
absence
of
oligodendrocyte
loss
.
Half
the
damaged
myelin
sheaths
still
contain
an
apparently
intact
axon
.
Clearance
of
myelin
debris
appears
inefficient
,
as
demonstrated
by
the
significant
but
mild
microglial
reaction
,
with
occasional
myelin
debris
either
contacted
or
internalized
by
microglial
cells
.
Our
findings
suggest
that
segmental
intramyelinic
oedema
is
an
early
,
conspicuous
white
matter
change
in
CADASIL
.
Brain
white
matter
intramyelinic
oedema
is
consistently
found
in
patients
and
mouse
models
with
compromised
ion
and
water
homeostasis
.
These
data
provide
a
starting
point
for
novel
mechanistic
studies
to
investigate
the
pathogenesis
of
SVD-related
white
matter
changes
.
Diseases
Validation
Diseases presenting
"brain white matter intramyelinic oedema"
symptom
cadasil
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