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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.
[cadasil]
Aims
:
To
analyze
the
NOTCH
3
gene
mutations
in
patients
from
mainland
China
clinically
suspected
to
have
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
and
evaluate
large
intracranial
arteries
in
CADASIL
patients
.
Methods
:
We
performed
clinical
,
neuroimaging
and
NOTCH
3
gene
(
exons
2
-
23
)
examinations
in
47
subjects
from
34
families
.
Large
intracranial
arteries
were
assessed
using
magnetic
resonance
angiography
(
MRA
)
in
19
cases
with
NOTCH
3
gene
variants
.
Results
:
Screening
of
exons
3
and
4
identified
six
different
known
mutations
in
eight
families
and
two
novel
mutations
in
two
families
.
Further
screening
of
the
remaining
exons
identified
p
.
R
1175
W
,
a
variant
of
unknown
significance
.
The
incidence
of
NOTCH
3
mutations
was
29
.
4
%
(
10
/
34
)
.
Five
cases
with
NOTCH
3
mutations
showed
intracranial
atherosclerosis
.
One
patient
developed
cerebral
infarction
due
to
left
middle
cerebral
artery
occlusion
(
M
2
segment
)
.
Conclusions
:
The
NOTCH
3
mutation
spectrum
in
our
group
was
diverse
and
consistent
with
those
in
Caucasians
but
differed
from
those
in
Korea
and
Taiwan
.
The
screening
strategy
used
in
Caucasian
populations
can
be
applied
to
mainland
Chinese
patients
.
Atherosclerosis
of
the
large
intracranial
arteries
involvement
does
not
exclude
CADASIL
diagnosis
.
Diseases
Validation
Diseases presenting
"cerebral infarction"
symptom
cadasil
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
malignant atrophic papulosis
sneddon syndrome
systemic capillary leak syndrome
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