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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
.