Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation.
[hereditary cerebral hemorrhage with amyloidosis]
The
contribution
of
mutations
in
the
amyloid
precursor
protein
(
APP
)
gene
known
as
Flemish
(
APP
/
A
692
G
)
and
Dutch
(
APP
/
E
693
Q
)
to
the
pathogenesis
of
Alzheimer
's
disease
and
hereditary
cerebral
hemorrhage
with
amyloidosis
of
the
Dutch
type
,
respectively
,
was
studied
in
transgenic
mice
that
overexpress
the
mutant
APP
in
brain
.
These
transgenic
mice
showed
the
same
early
behavioral
disturbances
and
defects
and
increased
premature
death
as
the
APP
/
London
(
APP
V
717
I
)
,
APP
/
Swedish
(
K
670
N
,
M
671
L
)
,
and
other
APP
transgenic
mice
described
previously
.
Pathological
changes
included
intense
glial
reaction
,
extensive
microspongiosis
in
the
white
matter
,
and
apoptotic
neurons
in
select
areas
of
the
brain
,
while
amyloid
deposits
were
absent
,
even
in
mice
over
18
months
of
age
.
This
contrasts
with
extensive
amyloid
deposition
in
APP
/
London
transgenic
mice
and
less
pronounced
amyloid
deposition
in
APP
/
Swedish
transgenic
mice
generated
identically
.
It
demonstrated
,
however
,
that
the
behavioral
deficiencies
and
the
pathological
changes
in
brain
resulting
from
an
impaired
neuronal
function
are
caused
directly
by
APP
or
its
proteolytic
derivative
(
s
)
.
These
accelerate
or
impinge
on
the
normal
process
of
aging
and
amyloid
deposits
per
se
are
not
essential
for
this
phenotype
.
Diseases
Validation
Diseases presenting
"amyloidosis of the dutch type"
symptom
hereditary cerebral hemorrhage with amyloidosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom