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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
"such positive results"
symptom
krabbe disease
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