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Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation.
[cadasil]
A
44
-
year
-old
Albanian
male
was
consulted
and
diagnosed
with
dementia
.
His
magnetic
resonance
imaging
suggested
diffuse
white
matter
changes
.
The
suspicion
of
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
was
raised
,
and
a
genetic
analysis
confirmed
such
a
suspicion
through
uncovering
a
pathogenic
mutation
at
the
level
of
exon
4
(
c
.
475
C
>
T
)
of
chromosome
19
.
The
patient
came
from
a
large
family
of
13
children
,
all
of
whom
underwent
clinical
,
genetic
,
and
imaging
examination
.
The
pathogenic
mutation
was
found
present
only
in
his
eldest
sister
(
50
years
old
)
,
and
she
presented
also
very
suggestive
signs
of
CADASIL
in
her
respective
imaging
study
,
but
without
any
clinically
significant
counterpart
.
All
other
siblings
were
free
from
clinical
and
radiological
signs
of
the
disorder
.
Our
opinion
was
that
we
were
dealing
with
a
mutation
showing
a
very
low
level
of
penetrance
,
with
only
two
siblings
affected
in
a
large
Albanian
family
with
13
children
.
Diseases
Validation
Diseases presenting
"very low level"
symptom
cadasil
carcinoma of the gallbladder
cowden syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
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