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Clinical and Radiological Features in CADASIL and NOTCH3 -Negative Patients: A Multicenter Study from Turkey.
[cadasil]
The
diversity
of
clinical
presentation
and
neuroimaging
findings
of
CADASIL
(
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
)
from
different
regions
of
the
world
has
not
yet
been
studied
in
depth
.
Here
we
investigated
the
variability
of
clinical
,
radiological
and
genetic
data
of
48
patients
analyzed
for
NOTCH
3
mutation
in
Turkey
.
Clinical
evaluation
was
made
according
to
a
preformed
questionnaire
.
Cranial
neuroimaging
findings
were
determined
on
the
basis
of
T
1
,
T
2
,
FLAIR
and
proton-density
magnetic
resonance
scans
.
For
genetic
analysis
,
polymerase
chain
reaction
was
performed
with
primers
flanking
exons
2
-
6
and
11
of
NOTCH
3
gene
.
Twenty
-
five
patients
(
52
.
1
%
)
were
diagnosed
as
CADASIL
with
NOTCH
3
mutation
,
while
23
patients
(
47
.
9
%
)
had
no
mutation
(
NOTCH
3
-
negative
patients
)
.
The
mean
age
and
age
at
stroke
onset
were
lower
in
male
CADASIL
patients
(
p
<
0
.
03
)
.
A
family
history
of
migraine
(
p
=
0
.
012
)
,
stroke
(
p
<
0
.
001
)
,
recurrent
strokes
(
p
=
0
.
020
)
and
dementia
(
p
=
0
.
012
)
was
more
common
in
CADASIL
patients
.
Temporal
pole
involvement
was
more
common
in
CADASIL
patients
(
p
=
0
.
004
)
.
It
is
of
clinical
importance
to
identify
the
heterogeneity
of
CADASIL
from
different
countries
due
to
a
low
correlation
of
clinical
and
radiological
data
with
respect
to
NOTCH
3
mutation
.
©
2014
S
.
Karger
AG
,
Basel
.
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