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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
.
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