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Experimental Therapies in the Murine Model of Globoid Cell Leukodystrophy.
[krabbe disease]
Globoid
cell
leukodystrophy
or
Krabbe
disease
,
is
a
rapidly
progressive
childhood
lysosomal
storage
disorder
caused
by
a
deficiency
in
galactocerebrosidase
.
Galactocerebrosidase
deficiency
leads
to
the
accumulation
of
galactosylsphingosine
(
psychosine
)
,
a
cytotoxic
lipid
especially
damaging
to
oligodendrocytes
and
Schwann
cells
.
The
progressive
loss
of
cells
involved
in
myelination
results
in
a
dysmyelinating
phenotype
affecting
both
the
central
and
peripheral
nervous
systems
.
Current
treatment
for
globoid
cell
leukodystrophy
is
limited
to
bone
marrow
or
umbilical
cord
blood
transplantation
.
However
,
these
therapies
are
not
curative
and
simply
slow
the
progression
of
the
disease
.
The
Twitcher
mouse
is
a
naturally
occurring
biochemically
faithful
model
of
human
globoid
cell
leukodystrophy
that
has
been
used
extensively
to
study
globoid
cell
leukodystrophy
pathophysiology
and
experimental
treatments
.
In
this
review
,
we
present
the
major
single
and
combination
experimental
therapies
targeting
specific
aspects
of
murine
globoid
cell
leukodystrophy
.
Literature
review
and
analysis
.
The
evidence
suggests
that
even
with
the
best
available
therapies
,
targeting
a
single
pathogenic
mechanism
provides
minimal
clinical
benefit
.
More
recently
,
combination
therapies
have
demonstrated
the
potential
to
further
advance
globoid
cell
leukodystrophy
treatment
by
synergistically
increasing
life
span
.
However
,
such
therapies
must
be
designed
and
evaluated
carefully
because
not
all
combination
therapies
yield
such
positive
results
.
A
more
complete
understanding
of
the
underlying
pathophysiology
and
the
interplay
between
various
therapies
holds
the
key
to
the
discovery
of
more
effective
treatments
for
globoid
cell
leukodystrophy
.
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