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Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy.
[x-linked adrenoleukodystrophy]
To
study
the
frequency
of
additional
cerebral
demyelination
in
Dutch
patients
with
adrenomyeloneuropathy
(
AMN
)
.
Consecutive
patients
with
AMN
from
the
Dutch
X-
linked
adrenoleukodystrophy
cohort
without
cerebral
demyelination
on
MRI
at
inclusion
,
seen
between
January
1
,
1992
,
and
January
1
,
1999
,
were
included
.
Primary
endpoints
were
brain
involvement
,
death
,
or
the
end
of
follow-up
on
January
1
,
2011
.
Three
levels
of
certainty
were
used
for
cerebral
demyelination
:
(
1
)
signs
and
symptoms
reported
by
relatives
and
treating
physicians
,
confirmed
by
brain
MRI
;
if
follow-up
MRIs
were
not
available
,
(
2
)
based
upon
information
from
treating
physicians
and
relatives
,
and
(
3
)
based
upon
information
obtained
from
relatives
only
.
Results
were
compared
with
a
study
published
in
2001
,
in
which
13
/
68
(
19
.
1
%
)
patients
with
AMN
developed
cerebral
demyelination
in
9
.
5
±
5
.
5
years
.
Differences
of
the
proportions
of
patients
with
cerebral
demyelination
and
their
95
%
confidence
intervals
(
CIs
)
were
calculated
.
Of
27
patients
with
AMN
,
17
(
63
%
)
developed
cerebral
demyelination
10
.
2
±
6
.
9
years
after
onset
of
myelo
(
neuro
)
pathy
.
Mean
survival
was
3
.
4
±
2
.
9
years
.
Brain
involvement
was
higher
in
Dutch
patients
with
AMN
(
difference
44
%
,
95
%
CI
0
.
23
-
0
.
64
)
.
Cerebral
demyelination
in
AMN
may
be
more
frequent
than
previously
reported
.
Survival
is
as
poor
as
in
childhood
cerebral
adrenoleukodystrophy
.
Therapies
that
can
halt
cerebral
demyelination
in
these
patients
are
needed
.
Diseases
Validation
Diseases presenting
"brain involvement"
symptom
adrenomyeloneuropathy
systemic capillary leak syndrome
x-linked adrenoleukodystrophy
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