Rare Diseases Symptoms Automatic Extraction
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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
.
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