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Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration.
[hereditary cerebral hemorrhage with amyloidosis]
Hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
(
HCHWA-D
)
is
a
rare
autosomal
dominant
disorder
caused
by
an
amyloid-
beta
precursor
protein
(
AbetaPP
)
693
mutation
that
clinically
leads
to
recurrent
hemorrhagic
strokes
and
dementia
.
The
disease
is
pathologically
characterised
by
the
deposition
of
Abeta
in
cerebral
blood
vessels
and
as
plaques
in
the
brain
parenchyma
.
This
study
measured
the
Abeta
40
and
Abeta
42
concentration
in
plasma
of
Dutch
AbetaPP
693
mutation
carriers
and
controls
.
We
found
that
the
Abeta
40
concentration
was
not
different
between
AbetaPP
693
mutation
carriers
and
controls
.
However
,
the
Abeta
42
concentration
was
significantly
decreased
in
the
mutation
carriers
.
No
correlation
exists
between
the
APOE
(
epsilon
)
4
allele
and
the
plasma
of
Abeta
40
and
Abeta
42
levels
in
HCHWA-D
patients
.
This
finding
contrasted
with
the
increased
concentrations
found
in
Alzheimer
's
disease
.
Therefore
it
is
suggested
that
the
Dutch
AbetaPP
693
mutation
located
within
the
Abeta
coding
region
of
the
AbetaPP
gene
has
a
different
effect
not
only
on
clinical
and
pathological
expression
but
also
on
Abeta
processing
.