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A random Abstract
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Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage.
[hereditary cerebral hemorrhage with amyloidosis]
Cerebral
amyloid
angiopathy
(
CAA
)
with
intracerebral
hemorrhage
(
ICH
)
occurs
both
sporadically
and
as
a
result
of
mutations
in
either
cystatin
C
or
the
amyloid
precursor
protein
.
ICH
due
to
cystatin
C
mutations
typically
occurs
in
young
people
of
Icelandic
origin
.
We
report
a
case
of
sporadic
CAA
with
ICH
in
an
elderly
Croatian
man
with
a
mutation
in
cystatin
C
identical
to
that
found
in
Icelandic
hereditary
cerebral
hemorrhage
with
amyloidosis
.
This
is
the
first
case
report
of
sporadic
CAA
associated
with
the
same
mutation
causing
hereditary
cerebral
hemorrhage
with
amyloidosis
of
the
Icelandic
type
.
Sporadic
CAA
may
thus
be
associated
with
genetic
mutations
in
some
patients
.
The
frequency
of
these
mutations
is
yet
to
be
determined
.
