Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Clinical spectrum in CADASIL family with a new mutation.
[cadasil]
Clinical
presentation
of
CADASIL
patients
is
variable
due
to
the
impact
of
other
vascular
risk
factors
and
the
type
of
a
NOTCH
3
mutation
.
This
variability
may
impede
the
diagnosis
of
the
disease
.
We
report
a
comprehensive
evaluation
of
several
individuals
in
the
CADASIL
family
whose
member
was
identified
to
have
the
new
mutation
of
NOTCH
3
receptor
on
exon
6
(
p
.
G
296
C
)
.
We
performed
genetic
testing
,
clinical
and
neuropsychological
examination
,
cerebral
MRI
,
Doppler
sonography
of
cerebral
arteries
,
fundoscopic
examination
and
fluorescent
angiography
in
six
family
members
to
determine
the
corresponding
clinical
spectrum
associated
with
the
new
mutation
.
The
CADASIL
mutation
was
detected
in
four
individuals
.
Three
of
them
were
symptomatic
,
two
having
a
history
of
stroke
and
one
suffering
from
migraine
.
Although
individuals
had
heterogeneous
findings
,
the
common
feature
included
vascular
changes
that
were
present
on
cerebral
and
/
or
retinal
arteries
in
all
the
mutation
carriers
even
in
one
subject
without
clinical
manifestation
of
the
disease
.
