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Characteristics of CADASIL in Chinese mainland patients.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
has
been
reported
in
many
geographical
regions
.
However
,
relatively
few
reports
about
CADASIL
in
Chinese
were
reported
.
We
retrospectively
collected
and
analyzed
clinical
characteristics
,
magnetic
resonance
(
MRI
)
features
and
genetic
data
of
52
Chinese
mainland
CADASIL
patients
.
Mean
age
of
onset
was
42
.
43
years
.
The
primary
clinical
manifestations
included
:
Ischemic
stroke
/
transient
ischemic
attack
(
62
.
5
%
)
,
primary
intracerebral
hemorrhage
(
25
%
)
,
vertigo
(
25
%
)
,
migraine
(
39
.
58
%
)
,
dementia
(
18
.
75
%
)
and
emotional
disturbance
(
20
.
83
%
)
.
The
most
frequently
observed
MRI
abnormalities
were
hyperintensity
in
the
cerebral
white
matter
on
T
2
-
weighted
images
and
multiple
infarcts
,
high
-signal
lesions
on
T
2
images
in
anterior
temporal
lobes
and
external
capsule
were
uncommon
.
The
highest
mutation
frequency
was
in
exon
regions
,
4
and
3
,
followed
by
exon
11
.
Granular
osmiophilic
material
(
GOM
)
was
identified
in
66
.
67
%
of
the
cases
examined
with
biopsy
.
Most
characteristics
of
Chinese
mainland
CADASIL
patients
are
similar
to
those
of
CADASIL
patients
living
in
other
regions
.
However
,
the
prevalence
of
primary
intracerebral
hemorrhage
and
vertigo
is
much
higher
in
Chinese
mainland
CADASIL
patients
.
Significant
leukoaraiosis
in
anterior
temporal
poles
on
T
2
-
weighted
image
are
uncommon
.
Exons
3
and
4
are
the
mutation
hotspots
.
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