Rare Diseases Symptoms Automatic Extraction
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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
.