Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination.
[canavan disease]
Canavan
disease
is
a
leukodystrophy
caused
by
mutations
in
the
ASPA
gene
.
This
gene
encodes
the
enzyme
that
converts
N-
acetylaspartate
into
acetate
and
aspartic
acid
.
In
Canavan
disease
,
spongiform
encephalopathy
of
the
brain
causes
progressive
mental
retardation
,
motor
deficit
and
death
.
We
have
isolated
a
mouse
with
a
novel
ethylnitrosourea-induced
mutation
in
Aspa
.
This
mutant
,
named
deaf
14
,
carries
a
c
.
516
T
>
A
mutation
that
is
predicted
to
cause
a
p
.
Y
172
X
protein
truncation
.
No
full-length
ASPA
protein
is
produced
in
deaf
14
brain
and
there
is
extensive
spongy
degeneration
.
Interestingly
,
we
found
that
deaf
14
mice
have
an
attenuated
startle
in
response
to
loud
noise
.
The
first
auditory
brainstem
response
peak
has
normal
latency
and
amplitude
but
peaks
II
,
III
,
IV
and
V
have
increased
latency
and
decreased
amplitude
in
deaf
14
mice
.
Our
work
reveals
a
hitherto
unappreciated
pathology
in
a
mouse
model
of
Canavan
disease
,
implying
that
auditory
brainstem
response
testing
could
be
used
in
diagnosis
and
to
monitor
the
progression
of
this
disease
.
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