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Advances and pitfalls of cell therapy in metabolic leukodystrophies.
[canavan disease]
Leukodystrophies
are
a
group
of
disorders
characterized
by
myelin
dysfunction
,
either
at
the
level
of
myelin
formation
or
maintenance
,
that
affect
the
central
nervous
system
(
CNS
)
and
also
in
some
cases
,
to
a
lesser
extent
,
the
peripheral
nervous
system
(
PNS
)
.
Although
these
genetic-based
disorders
are
generally
rare
,
all
together
they
have
a
significant
impact
in
the
society
,
with
an
estimated
overall
incidence
of
1
in
7
,
663
live
births
.
Currently
,
there
is
no
cure
for
leukodystrophies
,
and
the
development
of
effective
treatments
remains
challenging
.
Not
only
leukodystrophies
generally
progress
very
fast
,
but
also
most
are
multifocal
needing
the
simultaneous
targeting
at
multiple
sites
.
Moreover
,
as
the
CNS
is
affected
,
the
blood
-
brain
barrier
(
BBB
)
limits
the
efficacy
of
treatment
.
Recently
,
interest
on
cell
therapy
has
increased
,
and
the
leukodystrophies
for
which
metabolic
correction
is
needed
have
become
first
-choice
candidates
for
cell-based
clinical
trials
.
In
this
review
,
we
present
and
discuss
the
available
cell
transplantation
therapies
in
metabolic
leukodystrophies
including
fucosidosis
,
X-
linked
adrenoleukodystrophy
,
metachromatic
leukodystrophy
,
Canavan
disease
,
and
Krabbe
's
disease
.
We
will
discuss
the
latest
advances
of
cell
therapy
and
its
pitfalls
in
this
group
of
disorders
,
taking
into
account
,
among
others
,
the
limitations
imposed
by
reduced
cell
migration
in
multifocal
conditions
,
the
need
to
achieve
corrective
enzyme
threshold
levels
,
and
the
growing
awareness
that
not
only
myelin
but
also
the
associated
axonopathy
needs
to
be
targeted
in
some
leukodystrophies
.
Diseases
Validation
Diseases presenting
"canavan disease"
symptom
canavan disease
x-linked adrenoleukodystrophy
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