Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Myelin lesions associated with lysosomal and peroxisomal disorders.
[krabbe disease]
Abnormalities
of
myelin
are
common
in
lysosomal
and
peroxisomal
disorders
.
Most
display
a
primary
loss
of
myelin
in
which
the
myelin
sheath
and
/
or
oligodendrocytes
are
selectively
targeted
by
diverse
pathogenetic
processes
.
The
most
severe
and
,
hence
,
clinically
relevant
are
heritable
diseases
predominantly
of
infants
and
children
,
the
leukodystrophies
:
metachromatic
,
globoid
cell
(
Krabbe
disease
)
and
adreno-
leukodystrophy
.
Our
still
limited
understanding
of
these
diseases
has
derived
from
multiple
sources
:
originally
,
neurological-neuropathologic-neurochemical
correlative
studies
of
the
natural
disease
in
humans
or
other
mammals
,
which
has
been
enhanced
by
more
sophisticated
and
contemporary
techniques
of
cell
and
molecular
biology
.
Transgenic
mouse
models
seem
to
be
the
most
promising
methodology
,
allowing
the
examination
of
the
cellular
role
of
lysosomes
and
peroxisomes
for
formation
and
maintenance
of
both
myelin
and
axons
,
and
providing
initial
platforms
to
evaluate
therapies
.
Treatment
options
are
woefully
inadequate
and
in
their
nascent
stages
,
but
still
inspire
some
hope
for
the
future
.
