Rare Diseases Symptoms Automatic Extraction
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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
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated