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The clinical spectrum of late-onset Alexander disease: a systematic literature review.
[alexander disease]
Following
the
discovery
of
glial
fibrillary
acidic
protein
(
GFAP
)
mutations
as
the
causative
factor
of
Alexander
disease
(
AxD
)
,
new
case
reports
have
recently
increased
,
prompting
a
more
detailed
comprehension
of
the
clinical
features
of
the
three
disease
subtypes
(
infantile
,
juvenile
and
adult
)
.
While
the
clinical
pattern
of
the
infantile
form
has
been
substantially
confirmed
,
the
late-onset
subtypes
(
i
.
e
.
,
juvenile
and
adult
)
,
once
considered
rare
manifestations
of
AxD
,
have
displayed
a
wider
clinical
spectrum
.
Our
aim
was
to
evaluate
the
clinical
phenotype
of
the
adult
and
juvenile
forms
by
reviewing
the
previously
reported
cases
.
Data
were
collected
from
previously
published
reports
on
112
subjects
affected
by
neuropathologically
or
genetically
proven
adult
and
juvenile
Alexander
disease
.
Although
the
late-onset
forms
of
AxD
show
a
wide
clinical
variability
,
a
common
pattern
emerges
from
comparing
previously
reported
cases
,
characterized
by
pseudo-
bulbar
signs
,
ataxia
,
and
spasticity
,
associated
with
atrophy
of
the
medulla
and
upper
cervical
cord
on
neuroimaging
.
Late
-onset
AxD
cases
can
no
longer
be
considered
as
rare
manifestations
of
the
disease
.
The
clinical
pattern
usually
reflects
the
topographic
localization
of
the
lesions
,
with
adult
cases
displaying
a
predominant
infratentorial
localization
of
the
lesions
.
Juvenile
cases
show
clinical
and
radiological
features
which
are
intermediate
between
adult
and
infantile
forms
.
Diseases
Validation
Diseases presenting
"associated with atrophy of the medulla and upper cervical cord on neuroimaging"
symptom
alexander disease
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