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Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.
[alexander disease]
Alexander
disease
(
AxD
)
is
a
neurodegenerative
disorder
with
prominent
white
matter
degeneration
and
the
presence
of
Rosenthal
fibers
containing
aggregates
of
glial
fibrillary
acidic
protein
(
GFAP
)
,
and
small
stress
proteins
HSP
27
and
αB-crystallin
,
and
widespread
reactive
gliosis
.
AxD
is
caused
by
mutations
in
GFAP
,
the
main
astrocyte
intermediate
filament
protein
.
We
previously
showed
that
intermediate
filament
protein
synemin
is
upregulated
in
reactive
astrocytes
after
neurotrauma
.
Here
,
we
examined
immunohistochemically
the
presence
of
synemin
in
reactive
astrocytes
and
Rosenthal
fibers
in
two
patients
with
AxD
.
There
was
an
abundance
of
GFAP
-
positive
Rosenthal
fibers
and
widespread
reactive
gliosis
in
the
white
matter
and
subpial
regions
.
Many
of
the
GFAP
-
positive
reactive
astrocytes
were
positive
for
synemin
,
and
synemin
was
also
present
in
Rosenthal
fibers
.
We
show
that
synemin
is
expressed
in
reactive
astrocytes
in
AxD
,
and
is
also
present
in
Rosenthal
fibers
.
The
potential
role
of
synemin
in
AxD
pathogenesis
remains
to
be
investigated
.
Diseases
Validation
Diseases presenting
"the presence of rosenthal fibers containing aggregates of glial fibrillary acidic protein"
symptom
alexander disease
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