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Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
caused
by
NOTCH
3
gene
mutations
that
result
in
vascular
smooth
muscle
cell
(
VSMC
)
degeneration
.
Its
distinctive
feature
by
electron
microscopy
(
EM
)
is
granular
osmiophilic
material
(
GOM
)
detected
in
VSMC
indentations
and
/
or
the
extracellular
space
close
to
VSMCs
.
Reports
of
the
sensitivity
of
EM
in
detecting
GOM
in
biopsies
from
CADASIL
patients
are
contradictory
.
We
present
data
from
32
patients
clinically
suspected
to
have
CADASIL
and
discuss
the
role
of
EM
in
its
diagnosis
in
this
retrospective
study
.
Skin
,
skeletal
muscle
,
kidney
and
pericardial
biopsies
were
examined
by
EM
;
the
NOTCH
3
gene
was
screened
for
mutations
.
Skin
and
muscle
biopsies
from
12
patients
without
neurological
symptoms
served
as
controls
.
All
GOM-
positive
patients
exhibited
NOTCH
3
mutations
and
vice
versa
.
This
study
i
)
confirms
that
EM
is
highly
specific
and
sensitive
for
CADASIL
diagnosis
;
ii
)
extends
our
knowledge
of
GOM
distribution
in
tissues
where
it
has
never
been
described
,
e
.
g
.
pericardium
;
iii
)
documents
a
novel
NOTCH
3
mutation
in
exon
3
;
and
iv
)
shows
that
EM
analysis
is
critical
to
highlight
the
need
for
comprehensive
NOTCH
3
analysis
.
Our
findings
also
confirm
the
genetic
heterogeneity
of
CADASIL
in
a
small
Italian
subpopulation
and
emphasize
the
difficulties
in
designing
algorithms
for
molecular
diagnosis
.
Diseases
Validation
Diseases presenting
"muscle biopsies"
symptom
cadasil
inclusion body myositis
pyruvate dehydrogenase deficiency
zellweger syndrome
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