Rare Diseases Symptoms Automatic Extraction
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[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
[cadasil]
CADASIL
is
an
inherited
small
vessel
disease
of
the
brain
caused
by
mutations
of
the
NOTCH
3
gene
encoding
a
receptor
of
smooth
muscle
cells
and
pericytes
within
the
wall
of
arterioles
and
capillaries
.
The
mutated
gene
is
responsible
for
accumulation
of
NOTCH
3
protein
and
aggregation
of
various
proteins
in
the
vascular
wall
.
The
disease
occurs
during
mid-adulthood
and
is
responsible
for
attacks
of
migraine
with
aura
,
ischemic
stroke
,
mood
disorders
and
cognitive
impairment
ranging
from
mild
alterations
of
attentional
performances
and
executive
functions
to
severe
dementia
.
The
disease
develops
in
adults
with
aging
and
is
responsible
at
the
latest
stage
of
gait
and
balance
troubles
associated
with
cognitive
impairment
that
may
lead
to
severe
disability
and
dependence
.
MRI
shows
widespread
white
matter
lesions
that
may
involve
the
anterior
part
of
temporal
lobes
often
associated
with
small
cerebral
infarcts
and
with
microbleeds
.
The
clinical
severity
is
related
to
accumulation
of
small
infarcts
and
the
development
of
cerebral
atrophy
over
time
.
The
diagnosis
of
the
disease
is
confirmed
by
genetic
testing
or
skin
biopsy
.
Diseases
Validation
Diseases presenting
"aggregation of various proteins in the vascular wall"
symptom
cadasil
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