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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
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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