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Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I--A review of clinical, radiologic and genetic aspects.
[hereditary cerebral hemorrhage with amyloidosis]
Hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
(
HCHWA-D
)
is
an
autosomal
dominant
disease
caused
by
deposition
of
beta
-amyloid
in
the
leptomeningeal
arteries
and
cortical
arterioles
,
in
addition
to
preamyloid
deposits
and
amyloid
plaques
in
the
brain
parenchyma
.
The
disease
is
due
to
a
point
mutation
at
codon
693
of
the
amyloid
precursor
protein
(
beta
PP
)
gene
at
chromosome
21
.
Since
this
point
mutation
is
diagnostic
for
HCHWA-D
,
presymptomatic
testing
is
feasible
and
offered
,
together
with
genetic
counselling
and
psychological
support
,
to
subjects
at
risk
.
HCHWA-D
is
clinically
characterized
by
recurrent
strokes
,
in
addition
to
dementia
,
which
can
occur
after
the
first
stroke
but
also
preceding
it
.
Radiological
studies
revealed
focal
lesions
(
hemorrhages
,
hemorrhagic
and
non-hemorrhagic
infarctions
)
and
diffuse
white
matter
damage
.
Diffuse
white
matter
hyperintensities
on
MRI
are
an
early
symptom
of
HCHWA-D
since
they
have
been
found
on
MRI
scans
of
subjects
who
had
not
suffered
a
stroke
.
The
presence
of
the
diagnostic
point
mutation
makes
HCHWA-D
a
useful
model
to
study
the
effects
of
cerebral
amyloid
angiopathy
in
vivo
.
The
characteristic
pathological
abnormalities
and
its
implications
for
Alzheimer
's
disease
will
be
discussed
in
Part
II
of
this
article
.
Diseases
Validation
Diseases presenting
"brain parenchyma"
symptom
cadasil
hereditary cerebral hemorrhage with amyloidosis
hydrocephalus with stenosis of the aqueduct of sylvius
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