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White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
[cadasil]
Magnetic
resonance
imaging
indicates
diffuse
white
matter
(
WM
)
changes
are
associated
with
cognitive
impairment
in
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
.
We
examined
whether
the
distribution
of
axonal
abnormalities
is
related
to
microvascular
pathology
in
the
underlying
WM
.
We
used
post-mortem
brains
from
CADASIL
subjects
and
similar
age
cognitively
normal
controls
to
examine
WM
axonal
changes
,
microvascular
pathology
,
and
glial
reaction
in
up
to
16
different
regions
extending
rostro-caudally
through
the
cerebrum
.
Using
unbiased
stereological
methods
,
we
estimated
length
densities
of
affected
axons
immunostained
with
neurofilament
antibody
SMI
32
.
Standard
immunohistochemistry
was
used
to
assess
amyloid
precursor
protein
immunoreactivity
per
WM
area
.
To
relate
WM
changes
to
microvascular
pathology
,
we
also
determined
the
sclerotic
index
(
SI
)
in
WM
arterioles
.
The
degree
of
WM
pathology
consistently
scored
higher
across
all
brain
regions
in
CADASIL
subjects
(
P
<
0
.
01
)
with
the
WM
underlying
the
primary
motor
cortex
exhibiting
the
most
severe
change
.
SMI
32
immunoreactive
axons
in
CADASIL
were
invariably
increased
compared
with
controls
(
P
<
0
.
01
)
,
with
most
prominent
axonal
abnormalities
observed
in
the
frontal
WM
(
P
<
0
.
05
)
.
The
SIs
of
arterioles
in
CADASIL
were
increased
by
25
-
45
%
throughout
the
regions
assessed
,
with
the
highest
change
in
the
mid-
frontal
region
(
P
=
0
.
000
)
.
Our
results
suggest
disruption
of
either
cortico-
cortical
or
subcortical-
cortical
networks
in
the
WM
of
the
frontal
lobe
that
may
explain
motor
deficits
and
executive
dysfunction
in
CADASIL
.
Widespread
WM
axonal
changes
arise
from
differential
stenosis
and
sclerosis
of
arterioles
in
the
WM
of
CADASIL
subjects
,
possibly
affecting
some
axons
of
projection
neurones
connecting
to
targets
in
the
subcortical
structures
.
Diseases
Validation
Diseases presenting
"brain regions"
symptom
22q11.2 deletion syndrome
alexander disease
cadasil
cushing syndrome
fabry disease
krabbe disease
pyruvate dehydrogenase deficiency
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