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Revisiting the neuropathogenesis of Zellweger syndrome.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
a
neonatal
-
lethal
genetic
disease
that
affects
all
tissues
,
and
features
neuropathology
that
involves
primary
developmental
defects
as
well
as
neurodegeneration
.
Neuropathological
changes
include
abnormal
neuronal
migration
affecting
the
cerebral
hemispheres
,
cerebellum
and
inferior
olivary
complex
,
abnormal
Purkinje
cell
arborisation
,
demyelination
and
post-
developmental
neuronal
degeneration
.
ZS
is
caused
by
mutations
in
peroxisome
biogenesis
,
or
PEX
,
genes
which
lead
to
defective
peroxisome
biogenesis
and
the
resultant
loss
of
peroxisomal
metabolic
function
.
The
molecular
and
cellular
bases
of
ZS
neuropathology
are
still
not
completely
understood
.
Attempts
to
explain
the
neuropathogenesis
have
implicated
peroxisomal
metabolic
dysfunction
,
and
more
specifically
the
loss
of
peroxisomal
products
,
such
as
plasmalogens
and
docosahexaenoic
,
and
the
accumulation
of
peroxisomal
substrates
,
such
as
very
-
long
-chain-fatty
acids
.
In
this
review
,
consideration
is
also
given
to
recent
findings
that
implicate
other
candidate
pathogenetic
factors
,
such
as
mitochondrial
dysfunction
,
oxidative
stress
,
protein
misfolding
,
aberrant
cell
signalling
,
and
inflammation
-
factors
that
have
also
been
identified
as
important
in
the
pathogenesis
of
other
neurological
diseases
.
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