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
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom