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Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?
[canavan disease]
Canavan
disease
(
CD
)
is
a
genetic
degenerative
brain
disorder
associated
with
mutations
of
the
gene
encoding
aspartoacylase
(
ASPA
)
.
In
humans
,
the
CD
syndrome
is
marked
by
early
onset
,
hydrocephalus
,
macroencephaly
,
psychomotor
retardation
,
and
spongiform
myelin
sheath
vacuolization
with
progressive
leukodystrophy
.
Metabolic
hallmarks
of
the
disease
include
elevated
N-
acetylaspartate
(
NAA
)
levels
in
brain
,
plasma
and
CSF
,
along
with
daily
excretion
of
large
amounts
of
NAA
and
its
anabolic
metabolite
,
N-
acetylaspartylglutamate
(
NAAG
)
.
Of
the
observed
neuropathies
,
the
most
important
appears
to
be
the
extensive
demyelination
that
interferes
with
normal
neuronal
signaling
.
However
,
finding
the
links
between
the
lacks
of
ASPA
activity
in
oligodendrocytes
,
the
buildup
of
NAA
in
white
matter
(
WM
)
and
the
mechanisms
underlying
the
edematous
spongiform
leukodystrophy
have
remained
elusive
.
In
this
analytical
review
we
consider
what
those
links
might
be
and
propose
that
in
CD
,
the
pathological
buildup
of
NAA
in
limited
WM
extracellular
fluid
(
ECF
)
is
responsible
for
increased
ECF
osmotic-hydrostatic
pressure
and
initiation
of
the
demyelination
process
.
We
also
hypothesize
that
NAA
is
not
directly
liberated
by
neurons
in
WM
as
it
is
in
gray
matter
,
and
that
its
source
in
WM
ECF
is
solely
as
a
product
of
the
catabolism
of
axon-released
NAAG
at
nodes
of
Ranvier
by
astrocyte
NAAG
peptidase
after
it
has
docked
with
the
astrocyte
surface
metabotropic
glutamate
receptor
3
.
This
hypothesis
ascribes
for
the
first
time
a
possible
key
role
played
by
astrocytes
in
CD
,
linking
the
lack
of
ASPA
activity
in
myelinating
oligodendrocytes
,
the
pathological
buildup
of
NAA
in
WM
ECF
,
and
the
spongiform
demyelination
process
.
It
also
offers
new
perspectives
on
the
cause
of
the
leukodystrophy
in
CD
,
and
on
possible
treatment
strategies
for
this
inherited
metabolic
disease
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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