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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
"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