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Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
results
from
mutations
in
the
ABCD
1
gene
disrupting
the
metabolism
of
very
-
long
-chain
fatty
acids
.
The
most
serious
form
of
ALD
,
cerebral
adrenoleukodystrophy
(
cALD
)
,
causes
neuroinflammation
and
demyelination
.
Neuroimaging
in
cALD
shows
inflammatory
changes
and
indicates
blood
-
brain
-barrier
(
BBB
)
disruption
.
We
hypothesize
that
disruption
may
occur
through
the
degradation
of
the
extracellular
matrix
defining
the
BBB
by
matrix
metalloproteinases
(
MMPs
)
.
MMPs
have
not
been
evaluated
in
the
setting
of
cALD
.
We
used
a
multiplex
assay
to
correlate
the
concentration
of
MMPs
in
cerebrospinal
fluid
and
plasma
to
the
severity
of
brain
inflammation
as
determined
by
the
ALD
MRI
(
Loes
)
score
and
the
neurologic
function
score
.
There
were
significant
elevations
of
MMP
2
,
MMP
9
,
MMP
10
,
TIMP
1
,
and
total
protein
in
the
CSF
of
boys
with
cALD
compared
to
controls
.
Levels
of
MMP
10
,
TIMP
1
,
and
total
protein
in
CSF
showed
significant
correlation
[
p
<
0
.
05
for
each
with
pre-transplant
MRI
Loes
Loes
scores
(
R
(
2
)
=
0
.
34
,
0
.
20
,
0
.
55
respectively
)
.
Levels
of
TIMP
1
and
total
protein
in
CSF
significantly
correlated
with
pre-transplant
neurologic
functional
scores
(
R
(
2
)
=
0
.
22
and
0
.
48
respectively
)
,
and
levels
of
MMP
10
and
total
protein
in
CSF
significantly
correlated
with
one
-
year
post-transplant
functional
scores
(
R
(
2
)
=
0
.
38
and
0
.
69
)
.
There
was
a
significant
elevation
of
MMP
9
levels
in
plasma
compared
to
control
,
but
did
not
correlate
with
the
MRI
or
neurologic
function
scores
.
M
MPs
were
found
to
be
elevated
in
the
CSF
of
boys
with
cALD
and
may
mechanistically
contribute
to
the
breakdown
of
the
blood
-
brain
-barrier
.
MMP
concentrations
directly
correlate
to
radiographic
and
clinical
neurologic
severity
.
Interestingly
,
increased
total
protein
levels
showed
superior
correlation
to
MRI
score
and
neurologic
function
score
before
and
at
one
year
after
transplant
.
Diseases
Validation
Diseases presenting
"pre-transplant neurologic functional scores"
symptom
x-linked adrenoleukodystrophy
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