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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
[hereditary cerebral hemorrhage with amyloidosis]
Mutations
at
codons
717
and
670
/
671
in
the
amyloid
precursor
protein
(
APP
)
are
rare
genetic
causes
of
familial
Alzheimer
's
disease
(
AD
)
.
A
mutation
at
codon
693
of
APP
has
also
been
described
as
the
genetic
defect
in
hereditary
cerebral
hemorrhage
with
amyloidosis
of
the
Dutch
type
(
HCHWA-D
)
.
We
have
reported
a
APP
692
Ala
--
>
Gly
(
Flemish
)
mutation
as
a
cause
of
intracerebral
hemorrhage
and
presenile
dementia
diagnosed
as
probable
AD
in
a
Dutch
family
.
We
now
describe
the
post-mortem
examination
of
two
demented
patients
with
the
APP
692
mutation
.
The
neuropathological
findings
support
the
diagnosis
of
AD
.
Leptomeningial
and
parenchymal
vessels
showed
extensive
deposition
of
Abeta
amyloid
protein
.
Numerous
senile
plaques
consisted
of
large
Abeta
amyloid
cores
,
often
measuring
more
than
30
microm
in
diameter
and
were
surrounded
by
a
fine
meshwork
of
dystrophic
neurites
.
In
addition
,
there
were
a
large
number
of
paired
helical
filaments
in
pyramidal
neurons
and
dystrophic
neurites
.
Our
findings
show
that
the
APP
692
mutation
leads
to
morphological
abnormalities
that
are
similar
to
AD
,
but
the
morphology
of
senile
plaques
is
clearly
distinct
from
that
described
in
sporadic
and
chromosome
14
-
linked
AD
patients
,
in
patients
with
APP
717
mutations
causing
familial
,
presenile
AD
and
in
patients
with
the
APP
693
mutation
causing
HCHWA-D
.
Diseases
Validation
Diseases presenting
"morphological abnormalities"
symptom
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
kindler syndrome
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