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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
.
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