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Canavan disease: clinical features and recent advances in research.
[canavan disease]
Canavan
disease
(
CD
)
is
a
genetic
neurodegenerative
leukodystrophy
that
results
in
the
spongy
degeneration
of
white
matter
in
the
brain
.
CD
is
characterized
by
mutations
in
the
gene
encoding
aspartoacylase
(
ASPA
)
,
the
substrate
enzyme
that
hydrolyzes
N-
acetylaspartic
acid
(
NAA
)
to
acetate
and
aspartate
.
Elevated
NAA
and
subsequent
deficiency
in
acetate
associated
with
this
disease
cause
progressive
neurological
symptoms
,
such
as
macrocephaly
,
visuocognitive
dysfunction
,
and
psychomotor
delay
.
The
prevalence
of
CD
is
higher
among
Ashkenazi
Jewish
people
,
and
several
types
of
mutations
have
been
reported
in
the
gene
coding
ASPA
.
Highly
elevated
NAA
is
more
specific
to
CD
than
other
leukodystrophies
,
and
an
examination
of
urinary
NAA
concentration
is
useful
for
diagnosing
CD
.
Many
researchers
are
now
examining
the
mechanisms
responsible
for
white
matter
degeneration
or
dysmyelination
in
CD
using
mouse
models
,
and
several
persuasive
hypotheses
have
been
suggested
for
the
pathophysiology
of
CD
.
One
is
that
NAA
serves
as
a
water
pump
;
consequently
,
a
disorder
in
NAA
catabolism
leads
to
astrocytic
edema
.
Another
hypothesis
is
that
the
hydrolyzation
of
NAA
in
oligodendrocytes
is
essential
for
myelin
synthesis
through
the
supply
of
acetate
.
Although
there
is
currently
no
curative
therapy
for
CD
,
dietary
supplements
are
candidates
that
may
retard
the
progression
of
the
symptoms
associated
with
CD
.
Furthermore
,
gene
therapies
using
viral
vectors
have
been
investigated
using
rat
models
.
These
therapies
have
been
found
to
be
tolerable
with
no
severe
long
-term
adverse
effects
,
reduce
the
elevated
NAA
in
the
brain
,
and
may
be
applied
to
humans
in
the
future
.
Diseases
Validation
Diseases presenting
"such as macrocephaly"
symptom
canavan disease
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