Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Leukoencephalopathy upon disruption of the chloride channel ClC-2.
[canavan disease]
ClC-
2
is
a
broadly
expressed
plasma
membrane
chloride
channel
that
is
modulated
by
voltage
,
cell
swelling
,
and
pH
.
A
human
mutation
leading
to
a
heterozygous
loss
of
ClC-
2
has
previously
been
reported
to
be
associated
with
epilepsy
,
whereas
the
disruption
of
Clcn
2
in
mice
led
to
testicular
and
retinal
degeneration
.
We
now
show
that
the
white
matter
of
the
brain
and
spinal
cord
of
ClC-
2
knock-out
mice
developed
widespread
vacuolation
that
progressed
with
age
.
Fluid-filled
spaces
appeared
between
myelin
sheaths
of
the
central
but
not
the
peripheral
nervous
system
.
Neuronal
morphology
,
in
contrast
,
seemed
normal
.
Except
for
the
previously
reported
blindness
,
neurological
deficits
were
mild
and
included
a
decreased
conduction
velocity
in
neurons
of
the
central
auditory
pathway
.
The
heterozygous
loss
of
ClC-
2
had
no
detectable
functional
or
morphological
consequences
.
Neither
heterozygous
nor
homozygous
ClC-
2
knock-out
mice
had
lowered
seizure
thresholds
.
Sequencing
of
a
large
collection
of
human
DNA
and
electrophysiological
analysis
showed
that
several
ClC-
2
sequence
abnormalities
previously
found
in
patients
with
epilepsy
most
likely
represent
innocuous
polymorphisms
.
Diseases
Validation
Diseases presenting
"blindness"
symptom
aniridia
canavan disease
coats disease
cohen syndrome
congenital toxoplasmosis
cystinuria
dracunculiasis
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
oculocutaneous albinism
x-linked adrenoleukodystrophy
This symptom has already been validated