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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"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated