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Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation.
[alexander disease]
Alexander
disease
(
AxD
)
is
pathologically
characterized
by
the
presence
of
Rosenthal
fibers
(
RF
)
,
which
are
made
up
of
GFAP
,
αB-crystallin
and
heat
shock
protein
27
,
in
the
cytoplasm
of
perivascular
and
subpial
astrocyte
endfeet
.
Since
GFAP
mutation
has
been
confirmed
in
reported
cases
of
AxD
,
clinical
or
experimental
research
is
being
conducted
on
the
relationship
between
GFAP
mutation
and
the
onset
pathology
as
well
as
the
clinical
form
.
We
conducted
a
nationwide
survey
and
a
clinical
study
,
and
classified
AxD
into
three
types
:
cerebral
AxD
(
type
1
)
,
which
primarily
has
an
infantile
onset
with
presence
of
seizures
,
psychomotor
developmental
retardation
,
macrocephaly
,
and
abnormalities
in
the
superior
frontal
cerebral
white
matter
observed
in
a
brain
MRI
;
bulbospinal
AxD
(
type
2
)
,
which
primarily
has
an
adult
onset
with
presence
of
muscle
weakness
,
hyperreflexia
,
bulbar
or
pseudobulbar
symptoms
,
signal
abnormalities
,
and
atrophy
observed
in
an
MRI
of
the
medulla
oblongata
and
upper
cervical
spinal
cord
;
and
an
intermediate
form
(
type
3
)
which
has
the
characteristics
of
both
.
A
research
on
GFAP
mutations
and
aggregate
formation
concluded
that
GFAP
mutations
decreased
the
solubility
of
GFAP
.
According
to
our
cell
model
experiment
,
the
formation
of
mutant
GFAP
aggravates
depending
on
the
site
of
the
GFAP
mutation
.
Furthermore
,
there
is
a
possibility
that
polymorphism
in
the
GFAP
promoter
gene
regulates
the
degree
to
which
GFAP
is
expressed
;
it
may
have
an
effect
on
clinical
heterogeneity
.
Recent
research
using
cell
and
animal
models
suggests
that
the
pathology
of
AxD
involves
not
only
mere
functional
abnormalities
in
intermediate
filaments
but
also
functional
abnormalities
in
astrocytes
as
well
as
in
neurons
.
Clarification
of
the
glia-neuron
interactions
will
prove
the
disease
to
be
very
interesting
.
Diseases
Validation
Diseases presenting
"pseudobulbar symptoms"
symptom
alexander disease
This symptom has already been validated
