Rare Diseases Symptoms Automatic Extraction
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Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.
[canavan disease]
Canavan
disease
is
a
childhood
leukodystrophy
caused
by
mutations
in
the
gene
for
human
aspartoacylase
(
ASPA
)
,
which
leads
to
an
abnormal
accumulation
of
the
substrate
molecule
N-
acetyl-aspartate
(
NAA
)
in
the
brain
.
This
study
was
designed
to
model
the
natural
history
of
Canavan
disease
using
MRI
and
proton
magnetic
resonance
spectroscopy
(
(
1
)
H-MRS
)
.
NAA
and
various
indices
of
brain
structure
(
morphology
,
quantitative
T
1
,
fractional
anisotropy
,
apparent
diffusion
coefficient
)
were
measured
in
white
and
gray
matter
regions
during
the
progression
of
Canavan
disease
.
A
mixed
-effects
statistical
model
was
used
to
fit
all
outcome
measures
.
Longitudinal
data
from
28
Canavan
patients
were
directly
compared
in
each
brain
region
with
reference
data
obtained
from
normal
,
age-matched
pediatric
subjects
.
The
resultant
model
can
be
used
to
non-invasively
monitor
the
natural
history
of
Canavan
disease
or
related
leukodystrophies
in
future
studies
involving
drug
,
gene
therapy
,
or
stem
cell
treatments
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated