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Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
,
the
most
common
form
of
familial
brain
arteriopathy
,
is
associated
with
deposition
of
granular
osmiophilic
material
(
GOM
)
.
We
used
immunohistochemistry
and
immunogold
electron
microscopy
(
EM
)
to
examine
the
distribution
of
GOM
and
NOTCH
3
ectodomain
(
N
3
ECD
)
protein
in
microvasculature
of
brain
gray
matter
and
white
matter
in
patients
with
CADASIL
,
non-
CADASIL
hereditary
small
-vessel
disease
and
sporadic
age-related
degenerative
disease
,
and
comparable-age
controls
.
We
observed
intense
immunostaining
patterns
with
2
different
anti-
N
3
ECD
antibodies
in
CADASIL
but
not
in
young
and
older
controls
or
other
small
-vessel
disease
patients
.
In
addition
,
CADASIL
samples
exhibited
immunoreactivity
in
arterial
walls
and
in
most
capillaries
.
Electron
microscopy
revealed
profound
and
widespread
extracellular
distribution
of
0
.
2
-
to
2
-
μm
GOM
deposits
associated
with
meningeal
vessels
and
perforating
arteries
and
arterioles
.
Granular
osmiophilic
material
was
adjacent
to
capillaries
even
within
white
matter
.
Immunogold
EM
with
antibody
A
1
-
1
to
N
3
ECD
revealed
abundant
particles
in
GOM
within
microvessels
,
vascular
smooth
muscle
cell
membranes
,
and
perivascular
cells
.
Granular
osmiophilic
material
did
not
exhibit
immunogold
labeling
for
smooth
muscle
α-actin
or
collagen
IV
.
These
results
showed
the
specificity
of
the
antibodies
and
confirm
the
predominant
localization
of
N
3
ECD
within
GOM
deposits
.
The
extensive
distribution
of
N
3
ECD
-GOM
complexes
within
meninges
,
arteries
,
arterioles
,
and
particularly
capillaries
in
the
brains
of
CADASIL
patients
suggests
that
NOTCH
3
fragments
are
major
components
of
GOM
deposits
,
which
may
be
eliminated
via
perivascular
routes
.
Diseases
Validation
Diseases presenting
"muscle cell membranes"
symptom
cadasil
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