Rare Diseases Symptoms Automatic Extraction
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Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases.
[alexander disease]
Pediatric
neurodegenerative
diseases
are
a
heterogeneous
group
of
diseases
that
result
from
specific
genetic
and
biochemical
defects
.
In
recent
years
,
studies
have
revealed
a
wide
spectrum
of
abnormal
cellular
functions
that
include
impaired
proteolysis
,
abnormal
lipid
trafficking
,
accumulation
of
lysosomal
content
,
and
mitochondrial
dysfunction
.
Within
neurons
,
elaborated
degradation
pathways
such
as
the
ubiquitin-proteasome
system
and
the
autophagy-lysosomal
pathway
are
critical
for
maintaining
homeostasis
and
normal
cell
function
.
Recent
evidence
suggests
a
pivotal
role
for
autophagy
in
major
adult
and
pediatric
neurodegenerative
diseases
.
We
herein
review
genetic
,
pathological
,
and
molecular
evidence
for
the
emerging
link
between
autophagy
dysfunction
and
lysosomal
storage
disorders
such
as
Niemann-
Pick
type
C
,
progressive
myoclonic
epilepsies
such
as
Lafora
disease
,
and
leukodystrophies
such
as
Alexander
disease
.
We
also
discuss
the
recent
discovery
of
genetically
deranged
autophagy
in
Vici
syndrome
,
a
multisystem
disorder
,
and
the
implications
for
the
role
of
autophagy
in
development
and
disease
.
Deciphering
the
exact
mechanism
by
which
autophagy
contributes
to
disease
pathology
may
open
novel
therapeutic
avenues
to
treat
neurodegeneration
.
To
this
end
,
an
outlook
on
novel
therapeutic
approaches
targeting
autophagy
concludes
this
review
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated