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
.
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