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Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
an
adult
onset
hereditary
vascular
disease
with
neurological
manifestations
.
The
classical
clinical
course
is
relentlessly
progressive
with
early
transient
ischaemic
attacks
(
TIA
)
or
strokes
,
dementia
and
finally
death
in
the
mid-
1960
s
.
The
disorder
is
inherited
in
an
autosomal
dominant
fashion
,
with
high
penetrance
and
broad
variable
clinical
course
even
within
family
.
It
is
caused
by
mutations
in
the
NOTCH
3
gene
;
all
causative
mutations
result
in
gain
or
loss
of
a
cysteine
residue
within
the
extracellular
domain
,
with
exons
3
and
4
reported
as
hot
spot
mutational
sites
.
Mutation
analysis
of
the
NOTCH
3
gene
was
performed
through
direct
sequencing
of
the
2
-
23
exons
containing
all
EGF
-like
domains
.
Patients
underwent
genetic
counselling
pre
and
post
testing
.
Here
,
we
report
two
novel
mutations
located
in
exons
6
and
15
of
the
NOTCH
3
gene
;
clinical
description
for
the
probands
and
for
available
relatives
is
enclosed
.
No
reliable
data
on
incidence
or
prevalence
rates
of
this
disease
are
available
:
it
is
therefore
essential
that
the
diagnosis
is
obtained
in
all
suspected
cases
through
the
extensive
analysis
of
the
NOTCH
3
gene
and
that
all
cases
are
brought
to
the
attention
of
the
scientific
community
.
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