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Cerebral vascular accumulation of Dutch-type Abeta42, but not wild-type Abeta42, in hereditary cerebral hemorrhage with amyloidosis, Dutch type.
[hereditary cerebral hemorrhage with amyloidosis]
Hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
(
HCHWA-D
)
,
is
an
autosomal
dominant
disorder
caused
by
the
Dutch
mutation
(
E
693
Q
)
in
the
beta
-amyloid
precursor
protein
.
This
mutation
produces
an
aberrant
amyloid
beta
(
Abeta
)
species
(
AbetaE
22
Q
)
and
causes
severe
meningocortical
vascular
Abeta
deposition
.
We
analyzed
the
Abeta
composition
of
the
vascular
amyloid
in
the
brains
of
HCHWA-D
patients
.
Immunohistochemistry
demonstrated
that
the
vascular
amyloid
contained
both
Abeta
40
and
Abeta
42
,
with
a
high
Abeta
40
/
Abeta
42
ratio
.
In
Western
blotting
of
cerebral
microvessel
fractions
isolated
from
the
brains
,
both
wild-
type
and
Dutch
-
type
Abeta
40
were
observed
as
major
species
.
Reverse-phase
HPLC-mass
spectrometric
analysis
of
the
fractions
revealed
both
wild-
type
and
Dutch
-
type
Abeta
38
as
the
other
main
components
of
the
vascular
amyloid
.
Moreover
,
we
detected
peaks
corresponding
to
Dutch
-
type
Abeta
42
but
not
to
wild-
type
Abeta
42
.
These
results
suggest
a
pathogenic
role
for
the
mutant
Abeta
42
in
addition
to
the
mutant
Abeta
40
in
the
cerebral
amyloid
angiopathy
of
HCHWA-D
.
Diseases
Validation
Diseases presenting
"other main components of the vascular amyloid"
symptom
hereditary cerebral hemorrhage with amyloidosis
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