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Strategies for treatment in Alexander disease.
[alexander disease]
Alexander
disease
is
a
rare
and
generally
fatal
disorder
of
the
CNS
,
originally
classified
among
the
leukodystrophies
because
of
the
prominent
myelin
deficits
found
in
young
patients
.
The
most
common
form
of
this
disease
affects
infants
,
who
often
have
profound
mental
retardation
and
a
variety
of
developmental
delays
,
but
later
onset
forms
also
occur
,
sometimes
with
little
or
no
white
matter
pathology
at
all
.
The
pathological
hallmark
of
Alexander
disease
is
the
inclusion
body
,
known
as
Rosenthal
fiber
,
within
the
cell
bodies
and
processes
of
astrocytes
.
Recent
genetic
studies
identified
heterozygous
missense
mutations
in
glial
fibrillary
acidic
protein
(
GFAP
)
,
the
major
intermediate
filament
protein
in
astrocytes
,
as
the
cause
of
nearly
all
cases
of
Alexander
disease
.
These
studies
have
transformed
our
view
of
this
disorder
and
opened
new
directions
for
investigation
and
clinical
practice
,
particularly
with
respect
to
diagnosis
.
Mechanisms
by
which
expression
of
mutant
forms
of
glial
fibrillary
acidic
protein
(
GFAP
)
lead
to
the
pleiotropic
manifestations
of
disease
(
afflicting
cell
types
beyond
the
ones
expressing
the
mutant
gene
)
are
slowly
coming
into
focus
.
Ideas
are
beginning
to
emerge
that
suggest
several
compelling
therapeutic
targets
for
interventions
that
might
slow
or
arrest
the
evolution
of
the
disease
.
This
review
will
outline
the
rationale
for
pursuing
these
strategies
,
and
highlight
some
of
the
critical
issues
that
must
be
addressed
in
the
planning
of
future
clinical
trials
.
Diseases
Validation
Diseases presenting
"as the cause of nearly all cases of alexander disease"
symptom
alexander disease
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