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Loss of central auditory processing in a mouse model of Canavan disease.
[canavan disease]
Canavan
Disease
(
CD
)
is
a
leukodystrophy
caused
by
homozygous
null
mutations
in
the
gene
encoding
aspartoacylase
(
ASPA
)
.
ASPA
-
deficiency
is
characterized
by
severe
psychomotor
retardation
,
and
excessive
levels
of
the
ASPA
substrate
N-
acetylaspartate
(
NAA
)
.
ASPA
is
an
oligodendrocyte
marker
and
it
is
believed
that
CD
has
a
central
etiology
.
However
,
ASPA
is
also
expressed
by
Schwann
cells
and
ASPA
-
deficiency
in
the
periphery
might
therefore
contribute
to
the
complex
CD
pathology
.
In
this
study
,
we
assessed
peripheral
and
central
auditory
function
in
the
AspalacZ
/
lacZ
rodent
model
of
CD
using
auditory
brainstem
response
(
ABR
)
.
Increased
ABR
thresholds
and
the
virtual
loss
of
waveform
peaks
4
and
5
from
AspalacZ
/
lacZ
mice
,
indicated
altered
central
auditory
processing
in
mutant
mice
compared
with
Aspawt
/
wt
controls
and
altered
central
auditory
processing
.
Analysis
of
ABR
latencies
recorded
from
AspalacZ
/
lacZ
mice
revealed
that
the
speed
of
nerve
conduction
was
unchanged
in
the
peripheral
part
of
the
auditory
pathway
,
and
impaired
in
the
CNS
.
Histological
analyses
confirmed
that
ASPA
was
expressed
in
oligodendrocytes
and
Schwann
cells
of
the
auditory
system
.
In
keeping
with
our
physiological
results
,
the
cellular
organization
of
the
cochlea
,
including
the
organ
of
Corti
,
was
preserved
and
the
spiral
ganglion
nerve
fibres
were
normal
in
ASPA
-
deficient
mice
.
In
contrast
,
we
detected
substantial
hypomyelination
in
the
central
auditory
system
of
AspalacZ
/
lacZ
mice
.
In
summary
,
our
data
suggest
that
the
lack
of
ASPA
in
the
CNS
is
responsible
for
the
observed
hearing
deficits
,
while
ASPA
-
deficiency
in
the
cochlear
nerve
fibres
is
tolerated
both
morphologically
and
functionally
.
Diseases
Validation
Diseases presenting
"while aspa-deficiency in the cochlear nerve fibres is tolerated both morphologically and functionally"
symptom
canavan disease
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