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Cognitive profile of CADASIL patients with R544C Notch3 mutation.
[cadasil]
Cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
an
inherited
microangiopathy
caused
by
mutations
in
the
Notch
3
gene
.
In
the
present
study
,
we
aimed
to
analyze
cognitive
and
neuroimaging
profiles
of
CADASIL
patients
with
R
544
C
mutation
.
Fifty
-
eight
consecutive
patients
with
R
544
C
mutation
and
26
normal
controls
were
investigated
.
The
patients
were
divided
into
two
groups
depending
on
the
presence
(
CADASIL
with
dementia
:
CADASIL
-D
)
or
absence
of
dementia
(
CADASIL
no
dementia
:
CADASIL
-
ND
)
.
We
applied
the
same
neuropsychological
test
to
the
three
groups
.
Brain
magnetic
resonance
images
were
obtained
from
58
patients
with
R
544
C
mutation
.
Linear
regression
models
were
used
to
assess
the
impact
of
lacunes
and
white
matter
hyperintensities
on
cognitive
function
in
the
CADASIL
-
ND
group
.
C
ompared
to
controls
,
the
CADASIL
-
ND
group
demonstrated
significant
difficulties
concerning
measures
of
attention
,
executive
function
,
and
motor
control
.
The
CADASIL
-D
group
was
impaired
in
all
cognitive
domains
that
were
assessed
,
except
the
language
domain
.
After
correction
for
age
and
educational
level
,
the
number
of
lacunes
was
associated
with
lower
scores
in
the
Alzheimer
's
Disease
Assessment
Scale
cognitive
subtest
and
Stroop
color
test
in
the
CADASIL
-
ND
group
.
Non-
Caucasian
CADASIL
patients
with
R
544
C
mutation
and
Caucasian
CADASIL
patients
show
similar
patterns
of
cognitive
impairment
.