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A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalus.
[hydrocephalus with stenosis of the aqueduct of sylvius]
Most
cells
of
the
developing
mammalian
brain
derive
from
the
ventricular
(
VZ
)
and
the
subventricular
(
SVZ
)
zones
.
The
VZ
is
formed
by
the
multipotent
radial
glia
/
neural
stem
cells
(
NSCs
)
while
the
SVZ
harbors
the
rapidly
proliferative
neural
precursor
cells
(
NPCs
)
.
Evidence
from
human
and
animal
models
indicates
that
the
common
history
of
hydrocephalus
and
brain
maldevelopment
starts
early
in
embryonic
life
with
disruption
of
the
VZ
and
SVZ
.
We
propose
that
a
"
cell
junction
pathology
"
involving
adherent
and
gap
junctions
is
a
final
common
outcome
of
a
wide
range
of
gene
mutations
resulting
in
proteins
abnormally
expressed
by
the
VZ
cells
undergoing
disruption
.
Disruption
of
the
VZ
during
fetal
development
implies
the
loss
of
NSCs
whereas
VZ
disruption
during
the
perinatal
period
implies
the
loss
of
ependyma
.
The
process
of
disruption
occurs
in
specific
regions
of
the
ventricular
system
and
at
specific
stages
of
brain
development
.
This
explains
why
only
certain
brain
structures
have
an
abnormal
development
,
which
in
turn
results
in
a
specific
neurological
impairment
of
the
newborn
.
Disruption
of
the
VZ
of
the
Sylvian
aqueduct
(
SA
)
leads
to
aqueductal
stenosis
and
hydrocephalus
,
while
disruption
of
the
VZ
of
telencephalon
impairs
neurogenesis
.
We
are
currently
investigating
whether
grafting
of
NSCs
/
neurospheres
from
normal
rats
into
the
CSF
of
hydrocephalic
mutants
helps
to
diminish
/
repair
the
outcomes
of
VZ
disruption
.