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The myelin mutants as models to study myelin repair in the leukodystrophies.
[krabbe disease]
The
leukodystrophies
are
rare
and
serious
genetic
disorders
of
the
central
nervous
system
that
primarily
affect
children
who
frequently
die
early
in
life
or
have
significantly
delayed
motor
and
mental
milestones
that
result
in
long
-term
disability
.
Although
with
some
of
these
disorders
,
early
intervention
with
bone
marrow
or
cord
blood
transplantation
has
been
proven
useful
,
it
has
not
yet
been
determined
that
such
therapies
promote
myelin
repair
of
the
central
nervous
system
.
Research
on
experimental
therapies
aimed
at
myelin
repair
is
aided
by
the
ability
to
test
cell
replacement
strategies
in
genetic
models
in
which
the
mutations
and
neuropathology
match
the
human
disorder
.
Thus
,
models
exist
of
Pelizaeus-
Merzbacher
disease
and
the
lysosomal
storage
disorder
,
Krabbe
disease
,
which
reflect
the
clinical
and
pathological
course
of
the
human
disorders
.
Collectively
,
animals
with
mutations
in
myelin
genes
are
called
the
myelin
mutants
,
and
they
include
rodent
models
such
as
the
shiverer
mouse
that
have
been
extensively
used
to
study
myelination
by
exogenous
cell
transplantation
.
These
studies
have
encompassed
many
permutations
of
the
age
of
the
recipient
,
type
of
transplanted
cell
,
site
of
engraftment
,
and
so
forth
,
and
they
offer
hope
that
the
scaling
up
of
myelin
produced
by
transplanted
cells
will
have
clinical
significance
in
treating
patients
.
Here
we
review
these
models
and
discuss
their
relative
importance
and
use
in
such
translational
approaches
.
We
discuss
how
grafts
are
identified
and
functional
outcomes
are
measured
.
Finally
,
we
briefly
discuss
the
cells
that
have
been
successfully
transplanted
,
which
may
be
used
in
future
clinical
trials
.
Diseases
Validation
Diseases presenting
"significantly delayed motor"
symptom
krabbe disease
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