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Hereditary cerebral hemorrhage with amyloidosis-Dutch type.
[hereditary cerebral hemorrhage with amyloidosis]
The
amyloid
beta
-protein
(
Abeta
)
E
22
Q
mutation
of
the
rare
disorder
hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
(
HCHWA-D
)
causes
severe
cerebral
amyloid
angiopathy
(
CAA
)
with
hemorrhagic
strokes
of
mid-life
onset
and
dementia
.
The
mutation
does
not
affect
total
Abeta
production
but
may
alter
the
Abeta
1
-
42
:
Abeta
1
-
40
ratio
,
and
affect
the
proteolytic
degradation
of
Abeta
and
its
transport
across
the
blood
-
brain
barrier
.
Abeta
E
22
Q
aggregates
faster
into
more
stable
amyloid-like
fibrils
than
wild-
type
Abeta
.
Non-fibrillar
Abeta
(
x-
42
)
deposits
precede
the
appearance
of
fibrils
and
the
deposition
of
Abeta
(
x-
40
)
in
the
vascular
basement
membrane
.
CAA
severity
tends
to
increase
with
age
but
may
vary
greatly
among
patients
of
comparable
ages
.
Lumenal
narrowing
of
affected
blood
vessels
,
leukoencephalopathy
,
CAA-associated
vasculopathies
,
and
perivascular
astrocytosis
,
microgliosis
,
and
neuritic
degeneration
complicate
the
development
of
HCHWA-D
CAA
.
Parenchymal
Abeta
deposition
is
also
enhanced
in
the
HCHWA-D
brain
with
non-fibrillar
membrane-bound
Abeta
(
x-
42
)
deposits
evolving
into
relatively
fibrillar
diffuse
plaques
variously
associated
with
reactive
astrocytes
,
activated
microglia
,
and
degenerating
neurites
.
Plaque
density
tends
to
decrease
with
age
.
Neurofibrillary
degeneration
is
absent
or
limited
.
HCHWA-D
dementia
is
associated
with
CAA
severity
independently
of
Braak
stage
,
age
,
and
plaque
density
.
Particularly
,
microaneurysms
may
contribute
to
the
development
of
(
small
)
hemorrhages
/
infarcts
and
the
latter
to
cognitive
decline
in
affected
subjects
.
However
,
the
relative
importance
of
cerebral
hemorrhages
/
infarcts
,
white
matter
damage
and
/
or
other
CAA-
or
Abeta-related
factors
for
cognitive
deterioration
in
HCHWA-D
remains
to
be
determined
.
Diseases
Validation
Diseases presenting
"relative importance"
symptom
aromatase deficiency
dracunculiasis
erythropoietic protoporphyria
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
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