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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
"mitochondrial dysfunction"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
inclusion body myositis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated