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A random Abstract
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Our Team
[Pathomechanisms and treatment of CADASIL].
[cadasil]
The
pathomechanisms
of
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
are
still
under
debate
.
Granular
osmiophilic
material
(
GOM
)
,
which
accumulates
around
the
basement
membrane
,
and
the
extracellular
domain
of
NOTCH
3
(
NECD
)
in
the
vessel
are
key
molecules
that
contributes
to
the
destruction
of
smooth
muscle
cells
in
CADASIL
.
In
addition
,
GOM
and
NECD
may
be
related
to
the
dysfunction
of
cerebral
small
vessels
in
patients
with
CADASIL
.
In
this
review
,
the
role
of
the
accumulation
of
these
abnormal
proteins
in
the
cerebral
small
vessels
,
and
the
pathomechanism
from
white
matter
lesions
,
microbleeds
,
and
lacunar
infarctions
to
vascular
dementia
are
discussed
.
We
diagnosed
63
CADASIL
cases
and
identified
3
features
that
were
common
to
Japanese
cases
.
First
,
the
ages
of
onset
of
clinical
symptoms
other
than
migraine
were
widely
distributed
;
the
age
of
onset
of
symptoms
was
greater
than
60
years
in
more
than
20
%
of
the
cases
.
Second
,
65
%
of
the
Japanese
CADASIL
cases
had
stroke
risk
factors
,
such
as
hypertension
,
hyperlipidemia
,
or
smoking
.
Third
,
in
20
%
of
the
cases
,
there
was
no
family
history
of
stroke
.
Therefore
,
new
diagnostic
criteria
for
Japanese
patients
with
CADASIL
were
proposed
on
the
basis
of
these
clinical
features
in
order
to
avoid
missing
cases
of
CADASIL
.
The
criteria
are
useful
for
screening
candidates
of
CADASIL
,
even
in
cases
with
elderly
onset
,
stroke
risk
factors
,
and
obscure
family
history
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated