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Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
Adults
with
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
remain
at
risk
for
progressive
neurological
deterioration
.
Phenotypes
vary
in
their
pathology
,
ranging
from
axonal
degeneration
to
inflammatory
demyelination
.
The
severity
of
symptoms
is
poorly
explained
by
conventional
imaging
.
To
test
the
hypothesis
that
neurochemistry
in
normal-appearing
brains
differs
in
adult
phenotypes
of
X-
ALD
and
that
neurochemical
changes
correlate
with
the
severity
of
symptoms
.
Using
a
7
-
Tesla
scanner
,
we
performed
structural
and
proton
magnetic
resonance
spectroscopic
imaging
in
13
adult
patients
with
X-
ALD
:
4
patients
with
adult
cerebral
ALD
,
5
patients
with
adrenomyeloneuropathy
(
AMN
)
,
and
4
female
heterozygotes
.
Nine
healthy
controls
were
included
.
Among
adult
X-
ALD
phenotypes
,
the
myo-inositol
to
creatine
ratio
was
46
%
higher
and
the
choline
to
creatine
ratio
was
21
%
higher
in
normal-appearing
white
matter
of
those
with
adult
cerebral
ALD
compared
with
those
with
AMN
(
P
<
.
05
)
.
Both
N-
acetylaspartate
to
creatine
(
P
=
.
03
)
and
glutamate
to
creatine
(
P
=
.
04
)
ratios
were
lower
in
AMN
patients
than
in
controls
.
There
were
no
significant
differences
between
patients
with
AMN
and
female
heterozygotes
.
In
the
cortex
,
patients
with
adult
cerebral
ALD
had
lower
N-
acetylaspartate
to
creatine
ratios
compared
with
female
heterozygotes
and
controls
(
P
=
.
02
)
.
The
global
myo-inositol
to
creatine
ratio
demonstrated
a
significant
association
with
Expanded
Disability
Status
Scale
score
(
Spearman
rho
=
0
.
66
,
P
=
.
04
)
.
Seven
-
Tesla
proton
magnetic
resonance
spectroscopic
imaging
reveals
differences
in
the
neurochemistry
of
adult
cerebral
ALD
but
can
not
distinguish
AMN
patients
from
female
heterozygotes
.
Myo-inositol
to
creatine
ratio
correlates
with
the
severity
of
the
symptoms
and
may
be
a
meaningful
biomarker
in
adult
X-
ALD
.
Diseases
Validation
Diseases presenting
"controls"
symptom
adrenomyeloneuropathy
congenital adrenal hyperplasia
fabry disease
hereditary cerebral hemorrhage with amyloidosis
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