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No mutations in cystatin C gene in cerebral amyloid angiopathy with cystatin C deposition.
[hereditary cerebral hemorrhage with amyloidosis]
To
investigate
the
relationship
between
cerebral
amyloid
angiopathy
(
CAA
)
and
cystatin
C
,
we
studied
five
CAA
patients
on
whose
cerebral
blood
vessels
colocalization
of
cystatin
C
and
beta
-protein
was
recognized
immunohistochemically
.
One
patient
was
suspected
as
familial
CAA
and
the
other
patients
were
sporadic
cases
.
Two
patients
had
low
concentration
of
cystatin
C
in
their
cerebrospinal
fluid
(
CSF
)
as
we
have
previously
reported
in
CAA
patients
.
Enzyme-linked
immunosorbent
assay
(
ELISA
)
revealed
that
cystatin
C
and
beta
-protein
have
been
included
at
the
ratio
of
about
1
:
100
in
the
crude
amyloid
fibrils
of
one
patient
.
Using
a
monoclonal
antibody
(
MAb
)
against
cystatin
C
,
we
performed
affinity
chromatography
and
immunoblotting
on
her
amyloid
fibril
fraction
.
Eluate
showed
a
band
with
a
mol
wt
of
14
,
000
and
the
N-
terminal
14
amino
acid
residues
of
14
-
kDa
protein
were
identical
with
that
of
cystatin
C
.
This
molecular
weight
is
not
identical
to
that
of
the
truncated
form
of
cystatin
C
deposited
in
hereditary
cerebral
hemorrhage
with
amyloidosis
in
Iceland
(
HCHWA
-
I
)
,
but
that
of
normal
cystatin
C
.
DNA
sequence
analysis
of
five
patients
showed
no
point
mutations
in
the
cystatin
C
gene
.
Cystatin
C
and
beta
-protein
colocalization
,
which
was
recognized
in
amyloid
lesions
of
CAA
,
suggests
that
cystatin
C
deposition
may
be
related
to
beta
-protein
deposition
.
We
hypothesize
that
cystatin
C
deposition
in
sporadic
cerebral
amyloid
angiopathy
with
cystatin
C
deposition
(
SCCAA
)
involves
a
different
mechanism
from
that
in
HCHWA
-
I
,
which
may
be
related
to
low
CSF
concentration
of
cystatin
C
without
amino
acid
substitutions
.
Diseases
Validation
Diseases presenting
"low concentration"
symptom
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
pyruvate dehydrogenase deficiency
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