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Advances and pitfalls of cell therapy in metabolic leukodystrophies.
[x-linked adrenoleukodystrophy]
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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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