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A random Abstract
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Review of Alexander disease: beyond the classical concept of leukodystrophy.
[alexander disease]
Alexander
disease
is
classified
as
one
of
the
leukodystrophies
,
which
are
degenerative
diseases
primarily
affecting
the
cerebral
white
matter
.
Formal
diagnosis
is
achieved
by
showing
diffuse
accumulation
of
Rosenthal
fibers
in
the
brain
by
biopsy
or
autopsy
.
Showing
a
heterozygous
mutation
in
the
glial
fibrillary
acidic
protein
(
GFAP
)
gene
is
currently
sufficient
for
diagnosis
.
The
mechanisms
of
Rosenthal
fiber
formation
remain
unclear
.
However
,
both
the
quality
and
quantity
of
GFAP
are
important
.
GFAP
-epsilon
(
rodent
homologous
GFAP
-delta
)
,
one
of
the
alternatively
spliced
GFAP
isoforms
,
may
also
play
a
modulating
role
in
aggregate
formation
.
The
current
ease
of
diagnosis
has
accelerated
the
accumulation
of
a
wide
variety
of
patients
with
Alexander
disease
along
with
the
widespread
use
of
MRI
.
In
contrast
to
the
classical
infantile
type
,
patients
with
juvenile
and
adult
types
mainly
complain
of
bulbar
symptoms
and
usually
show
progressive
atrophy
of
the
lower
brainstem
and
cervical
spinal
cord
with
mild
or
minimal
leukodystrophic
changes
.
Among
the
many
MRI
findings
of
Alexander
disease
,
periventricular
linear
lesions
with
various
names
depending
on
the
thickness
and
shape
seem
to
represent
the
unique
pathophysiology
,
because
the
subventricular
zone
of
the
adult
human
brain
includes
special
astrocytes
that
behave
as
multipotent
progenitor
cells
and
specifically
produce
GFAP
-epsilon
.
Except
for
a
few
mutations
,
no
clear
phenotype-genotype
correlation
has
been
established
for
Alexander
disease
,
although
male
preponderance
in
the
infantile
type
suggests
that
phenotypes
may
be
partly
affected
by
gender
.
Diseases
Validation
Diseases presenting
"wide variety"
symptom
alexander disease
allergic bronchopulmonary aspergillosis
cadasil
erythropoietic protoporphyria
esophageal carcinoma
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
lymphangioleiomyomatosis
oral submucous fibrosis
pleomorphic liposarcoma
proteus syndrome
severe combined immunodeficiency
x-linked adrenoleukodystrophy
zellweger syndrome
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