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Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype.
[hereditary cerebral hemorrhage with amyloidosis]
Hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
is
caused
by
a
mutation
at
codon
693
of
the
beta
amyloid
precursor
protein
gene
.
The
disease
is
clinically
characterized
by
strokes
and
dementia
.
In
addition
to
cerebral
plaques
,
cerebral
amyloid
angiopathy
is
the
pathological
hallmark
.
We
investigated
the
correlation
between
radiological
(
white
matter
hyperintensities
and
focal
lesions
on
magnetic
resonance
images
)
and
pathological
lesions
(
cerebrovascular
amyloid
angiopathy
and
plaques
)
and
the
apolipoprotein
E
genotype
in
patients
with
the
disease
.
Twenty
-
five
patients
were
studied
using
magnetic
resonance
imaging
,
and
brain
tissue
from
8
patients
was
studied
histopathologically
.
Neither
the
white
matter
hyperintensity
scores
nor
the
number
of
focal
lesions
on
magnetic
resonance
images
were
associated
with
the
presence
of
an
epsilon
4
allele
.
Nor
was
a
correlation
found
between
the
number
and
type
of
plaques
and
the
apolipoprotein
E
genotype
.
All
patients
had
severe
amyloid
angiopathy
in
all
cortical
areas
investigated
.
This
study
showed
that
the
apolipoprotein
E
genotype
does
not
modulate
amyloid-related
structural
lesions
in
hereditary
cerebral
hemorrhage
with
amyloidosis
of
the
Dutch
type
.
Diseases
Validation
Diseases presenting
"brain tissue"
symptom
22q11.2 deletion syndrome
alexander disease
cadasil
classical phenylketonuria
congenital toxoplasmosis
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
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