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Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.
[canavan disease]
In
order
to
identify
biomarkers
useful
for
the
diagnosis
of
genetic
white
matter
disorders
we
compared
the
metabolic
profile
of
patients
with
leukodystrophies
with
a
hypomyelinating
or
a
non-hypomyelinating
MRI
pattern
.
We
used
a
non-a
priori
method
of
in
vitro
ยน
H-NMR
spectroscopy
on
CSF
samples
of
74
patients
with
leukodystrophies
.
We
found
an
elevation
of
CSF
N-
acetylaspartylglutamate
(
NAAG
)
in
patients
with
Pelizaeus-
Merzbacher
disease
(
PMD
)
-
PLP
1
gene
,
Pelizaeus-
Merzbacher-like
disease-
GJC
2
gene
and
Canavan
disease
-
ASPA
gene
.
In
the
PMD
group
,
NAAG
was
significantly
elevated
in
the
CSF
of
all
patients
with
PLP
1
duplication
(
19
/
19
)
but
was
strictly
normal
in
6
out
of
7
patients
with
PLP
1
point
mutations
.
Additionally
,
we
previously
reported
increased
CSF
NAAG
in
patients
with
SLC
17
A
5
mutations
.
E
levated
CSF
NAAG
is
a
biomarker
that
suggests
specific
molecular
diagnostic
abnormalities
in
patients
with
white
matter
diseases
.
Our
findings
also
point
to
unique
pathological
functions
of
the
overexpressed
PLP
in
PMD
patients
with
duplication
of
this
gene
.
Diseases
Validation
Diseases presenting
"duplication of this gene"
symptom
canavan disease
holt-oram syndrome
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