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Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver.
[zellweger syndrome]
Defects
in
the
formation
of
the
cerebral
cortex
and
the
cerebellum
are
a
prominent
feature
of
the
peroxisome
biogenesis
disorder
Zellweger
syndrome
and
in
mouse
models
for
this
disease
.
The
aim
of
the
present
study
was
to
investigate
the
impact
of
liver
and
brain
peroxisomes
on
neurodevelopment
by
analyzing
mice
with
tissue-selective
elimination
of
peroxisomes
.
To
this
end
,
Pex
5
-
loxP
mice
were
bred
with
albumin
/
alpha-fetoprotein
(
Alfp
)
-
Cre
and
nestin
(
Nes
)
-
Cre
mice
.
Local
elimination
of
peroxisomes
from
the
brain
in
Nes-
Pex
5
knockout
mice
caused
a
delay
of
cortical
neuronal
migration
and
of
the
formation
of
cerebellar
folia
and
fissures
.
Migration
of
granule
cells
from
the
external
granular
layer
was
retarded
,
as
was
the
polarization
and
branching
of
Purkinje
cells
,
resulting
in
a
less
complex
branching
pattern
and
a
smaller
dendritic
tree
at
P
21
.
The
Alfp-
Pex
5
knockout
mice
were
affected
differently
,
displaying
a
partial
arrest
of
neuronal
migration
in
the
cerebral
neopallium
in
the
postnatal
period
despite
of
the
incomplete
elimination
of
peroxisomes
from
liver
during
embryonic
development
.
Major
abnormalities
were
seen
in
the
formation
of
the
cerebellum
of
these
liver
knockout
mice
,
including
hypotrophy
,
impaired
foliation
,
a
delay
of
granule
cell
migration
,
increased
cell
death
,
and
stunted
Purkinje
cell
arborization
.
In
conclusion
,
these
data
demonstrate
that
absence
of
peroxisomal
function
both
from
liver
and
brain
impairs
cortical
neuronal
migration
and
maturation
of
the
cerebellum
,
but
different
pathogenic
mechanisms
might
be
involved
.
Diseases
Validation
Diseases presenting
"the cerebellum are a prominent feature of the peroxisome biogenesis disorder zellweger syndrome and in mouse models for this disease"
symptom
zellweger syndrome
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