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Senile dementia associated with amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques in patients homozygous for the APOE-epsilon4 allele.
[hereditary cerebral hemorrhage with amyloidosis]
Amyloid
beta
protein
deposition
in
cortical
and
leptomeningeal
vessels
,
causing
the
most
common
type
of
cerebral
amyloid
angiopathy
,
is
found
in
sporadic
and
familial
Alzheimer
's
disease
(
AD
)
and
is
the
principal
feature
in
the
hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
.
The
presence
of
the
Apolipopriotein
E
(
APOE
)
-
epsilon
4
allele
has
been
implicated
as
a
risk
factor
for
AD
and
the
development
of
cerebral
amyloid
angiopathy
in
AD
.
We
report
clinical
,
pathological
and
biochemical
studies
on
two
APOE
-epsilon
4
homozygous
subjects
,
who
had
senile
dementia
and
whose
main
neuropathological
feature
was
a
severe
and
diffuse
amyloid
angiopathy
associated
with
perivascular
tau
neurofibrillary
pathology
.
Amyloid
beta
protein
and
ApoE
immunoreactivity
were
observed
in
leptomeningeal
vessels
as
well
as
in
medium-sized
and
small
vessels
and
capillaries
in
the
parenchyma
of
the
neocortex
,
hippocampus
,
thalamus
,
cerebellum
,
midbrain
,
pons
,
and
medulla
.
The
predominant
peptide
form
of
amyloid
beta
protein
was
that
terminating
at
residue
Val
40
,
as
determined
by
immunohistochemistry
,
amino
acid
sequence
and
mass
spectrometry
analysis
.
A
crown
of
tau-immunopositive
cell
processes
was
consistently
present
around
blood
vessels
.
DNA
sequence
analysis
of
the
Amyloid
Precursor
Protein
gene
and
Presenilin-
1
(
PS-
1
)
gene
revealed
no
mutations
.
In
these
APOE
-epsilon
4
homozygous
patients
,
the
pathological
process
differed
from
that
typically
seen
in
AD
in
that
they
showed
a
heavy
burden
of
perivascular
tau-immunopositive
cell
processes
associated
with
severe
amyloid
beta
protein
angiopathy
,
neurofibrillary
tangles
,
some
cortical
Lewy
bodies
and
an
absence
of
neuritic
plaques
.
These
cases
emphasize
the
concept
that
tau
deposits
may
be
pathogenetically
related
to
amyloid
beta
protein
deposition
.
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