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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
"cerebral amyloid angiopathy"
symptom
cadasil
hereditary cerebral hemorrhage with amyloidosis
This symptom has already been validated