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Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
-
is
the
most
common
genetic
source
of
vascular
dementia
in
adults
,
being
caused
by
a
mutation
in
NOTCH
3
gene
.
Spontaneous
de
novo
mutations
may
occur
,
but
their
frequency
is
largely
unknown
.
Ischemic
strokes
and
cognitive
impairments
are
the
most
frequent
manifestations
,
but
seizures
affect
up
to
10
%
of
the
patients
.
Herein
,
we
describe
a
47
-
year
-old
male
scholar
with
a
genetically
confirmed
diagnosis
of
CADASIL
(
Arg
133
Cys
mutation
in
the
NOTCH
3
gene
)
and
a
seemingly
negative
family
history
of
CADASIL
illness
,
who
was
investigated
with
a
comprehensive
neuropsychological
testing
battery
and
neuroimaging
methods
.
The
patient
demonstrated
on
one
hand
severe
and
accelerated
deteriorations
in
multiple
cognitive
domains
such
as
concentration
,
long
-term
memory
(
including
the
episodic
-autobiographical
memory
domain
)
,
problem
solving
,
cognitive
flexibility
and
planning
,
affect
recognition
,
discrimination
and
matching
,
and
social
cognition
(
theory
of
mind
)
.
Some
of
these
impairments
were
even
captured
by
abbreviated
instruments
for
investigating
suspicion
of
dementia
.
On
the
other
hand
the
patient
still
possessed
high
crystallized
(
verbal
)
intelligence
and
a
capacity
to
put
forth
a
façade
of
well-preserved
intellectual
functioning
.
Although
no
definite
conclusions
can
be
drawn
from
a
single
case
study
,
our
findings
point
to
the
presence
of
additional
cognitive
changes
in
CADASIL
in
middle
adulthood
,
in
particular
to
impairments
in
the
episodic
-autobiographical
memory
domain
and
social
information
processing
(
e
.
g
.
,
social
cognition
)
.
Whether
these
identified
impairments
are
related
to
the
patient
's
specific
phenotype
or
to
an
ascertainment
bias
(
e
.
g
.
,
a
paucity
of
studies
investigating
these
cognitive
functions
)
requires
elucidation
by
larger
scale
research
.
Diseases
Validation
Diseases presenting
"dementia in adults"
symptom
cadasil
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