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Homozygosity and severity of phenotypic presentation in a CADASIL family.
[cadasil]
Most
of
causative
mutations
of
the
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
are
missense
point
mutations
either
creating
or
deleting
one
cysteine
residue
,
inherited
in
a
heterozygous
state
.
Only
few
homozygous
patients
are
reported
to
date
and
some
of
them
showed
phenotypic
peculiarities
.
We
here
describe
a
CADASIL
family
in
which
a
member
showed
homozygous
mutation
and
compare
its
clinical
profile
with
five
subjects
throughout
three
generation
of
the
pedigree
,
carrying
the
same
mutation
in
heterozygosity
.
The
index
patient
was
a
44
-
year
-old
Italian
man
,
born
from
consanguineous
parents
(
first
cousins
)
.
Symptoms
started
at
23
years
and
progressing
with
recurrent
ischemic
stroke
episode
.
Diffuse
leukoencephalopathy
and
a
severe
cognitive
impairment
were
evident
,
GOMs
were
detected
in
skin
specimens
and
a
homozygous
p
.
C
ys
183
S
er
mutation
of
the
NOTCH
3
gene
was
found
.
Among
the
other
five
heterozygous
relatives
for
the
same
mutation
,
both
parents
developed
stroke
in
advanced
age
and
all
the
others
were
clinically
asymptomatic
.
We
discuss
these
findings
in
relationship
to
previous
data
from
the
literature
in
CADASIL
and
in
other
dominant
neurological
disorders
.
Diseases
Validation
Diseases presenting
"recurrent ischemic stroke episode"
symptom
cadasil
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