Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Detection of early cognitive impairment using AD8 in a young patient with stroke with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome: a case report.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
syndrome
is
a
hereditary
disease
resulting
from
NOTCH
3
gene
mutation
.
The
clinical
presentations
include
migraine
,
recurrent
stroke
,
and
cognitive
impairment
.
The
severity
of
cognitive
impairment
varies
in
different
stages
,
and
early
recognition
poses
a
challenge
.
A
47
-
year
-old
lady
presented
with
chronic
migraine
and
sudden
onset
of
hemiparesis
.
Magnetic
resonance
imaging
revealed
compatible
findings
of
CADASIL
,
which
was
confirmed
by
mutation
analysis
of
NOTCH
3
gene
.
Early
cognitive
impairment
was
detected
by
her
score
of
3
in
Ascertain
Dementia
8
(
AD
8
)
questionnaire
and
confirmed
by
detailed
neuropsychological
assessments
.
After
21
months
of
follow-up
,
deterioration
in
her
cognition
and
ability
to
perform
instrumental
activities
of
daily
living
were
significant
with
a
follow-up
AD
8
score
of
7
.
Ascertain
Dementia
8
questionnaire
is
an
easy
and
valid
screening
tool
for
early
cognitive
impairment
in
patients
with
CADASIL
syndrome
.
