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Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.
[cadasil]
The
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leucoencephalopathy
(
CADASIL
)
is
because
of
NOTCH
3
mutations
affecting
the
number
of
cysteine
residues
.
In
this
view
,
the
role
of
atypical
NOTCH
3
mutations
is
still
debated
.
Therefore
,
we
investigated
a
family
carrying
a
NOTCH
3
nonsense
mutation
,
with
dominantly
inherited
recurrent
cerebrovascular
disorders
.
Among
7
family
members
,
4
received
a
clinical
diagnosis
of
CADASIL
.
A
heterozygous
truncating
mutation
in
exon
3
(
c
.
307
C
>
T
,
p
.
Arg
103
X
)
was
found
in
the
4
clinically
affected
subjects
and
in
one
27
-
year
old
lady
,
only
complaining
of
migraine
with
aura
.
Magnetic
resonance
imaging
scans
found
typical
signs
of
small
-vessel
disease
in
the
4
affected
subjects
,
supporting
the
clinical
diagnosis
.
Skin
biopsies
did
not
show
the
typical
granular
osmiophilic
material
,
but
only
nonspecific
signs
of
vascular
damage
,
resembling
those
previously
described
in
Notch
3
knockout
mice
.
Interestingly
,
messenger
RNA
(
mRNA
)
analysis
supports
the
hypothesis
of
an
atypical
NOTCH
3
mutation
,
suggesting
a
nonsense-mediated
mRNA
decay
.
In
conclusion
,
the
present
study
broadens
the
spectrum
of
CADASIL
mutations
,
and
,
therefore
,
opens
new
insights
about
Notch
3
signaling
.
Diseases
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Diseases presenting
"typical granular osmiophilic material"
symptom
cadasil
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