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The molecular pathology of hereditary cystatin C amyloid angiopathy causing brain hemorrhage.
[hereditary cerebral hemorrhage with amyloidosis]
Knowledge
about
molecular
pathology
of
hereditary
cystatin
C
amyloid
angiopathy
(
HCCAA
)
,
also
called
hereditary
cerebral
hemorrhage
with
amyloidosis
,
Icelandic
type
,
has
increased
greatly
in
the
last
decade
.
The
disorder
has
an
autosomal
dominant
mode
of
inheritance
and
causes
fatal
brain
hemorrhage
in
normotensive
young
adults
.
It
is
due
to
a
mutation
in
the
gene
encoding
the
cysteine
proteinase
inhibitor
,
cystatin
C
.
A
single
nucleotide
is
substituted
,
A
for
T
,
in
the
codon
68
,
resulting
in
glutamine
replacing
leucine
in
the
protein
sequence
.
This
variant
protein
has
an
increased
tendency
to
aggregate
and
forms
heavy
depositions
of
amyloid
in
the
walls
of
the
small
arteries
and
arterioles
of
the
brain
.
The
amyloid
deposition
leads
to
arterial
damage
with
single
or
multiple
strokes
.
In
the
following
review
the
clinical
features
,
family
studies
,
pathology
,
biochemistry
and
molecular
genetics
of
HCCAA
are
addressed
.
Diseases
Validation
Diseases presenting
"small arteries"
symptom
cadasil
hereditary cerebral hemorrhage with amyloidosis
malignant atrophic papulosis
sneddon syndrome
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