Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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De novo mutation in the NOTCH3 gene causing CADASIL.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leucoencephalopathy
(
CADASIL
)
is
one
of
the
most
common
hereditary
forms
of
stroke
,
and
migraine
with
aura
,
mood
disorders
and
dementia
.
CADASIL
is
caused
by
mutations
of
the
NOTCH
3
gene
.
This
mutation
is
inherited
as
an
autosomal
dominant
trait
.
Most
individuals
with
CADASIL
have
a
parent
with
the
disorder
.
In
extremely
rare
cases
,
CADASIL
may
occur
due
to
a
spontaneous
genetic
mutation
that
occurs
for
unknown
reasons
(
de
novo
mutation
)
.
We
report
a
new
case
of
patient
with
de
novo
mutation
of
the
NOTCH
3
gene
and
a
condition
strongly
suggestive
of
CADASIL
(
migraine
,
stroke
,
and
white
matter
abnormalities
)
,
except
that
this
patient
did
not
have
any
first
-degree
relatives
with
similar
symptoms
.
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
