Rare Diseases Symptoms Automatic Extraction
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Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease.
[alexander disease]
Alexander
disease
(
AxD
)
is
the
only
known
human
pathology
caused
by
mutations
in
an
astrocyte-
specific
gene
,
glial
fibrillary
acidic
protein
(
GFAP
)
.
These
mutations
result
in
abnormal
GFAP
accumulations
that
promote
seizures
,
motor
delays
and
,
ultimately
,
death
.
The
exact
contribution
of
increased
,
abnormal
levels
of
astrocytic
mutant
GFAP
in
the
development
and
progression
of
the
epileptic
phenotype
is
not
clear
,
and
we
addressed
this
question
using
two
mouse
models
of
AxD
.
Comparison
of
brain
seizure
activity
spontaneously
and
after
traumatic
brain
injury
(
TBI
)
,
an
effective
way
to
trigger
seizures
,
revealed
that
abnormal
GFAP
accumulation
contributes
to
anomalous
brain
activity
(
increased
non-convulsive
hyperactivity
)
but
is
not
a
risk
factor
for
the
development
of
epilepsy
after
TBI
.
These
data
highlight
the
need
to
further
explore
the
complex
and
heterogeneous
response
of
astrocytes
towards
injury
and
the
involvement
of
GFAP
in
the
progression
of
AxD
.
