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Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.
[alexander disease]
In
this
report
,
we
describe
the
case
of
a
new
Japanese
family
(
32
to
64
years
old
;
2
females
and
1
male
)
affected
by
adult-onset
Alexander
disease
.
Clinically
,
one
member
(
age
at
onset
,
56
years
old
)
developed
cerebellar
ataxia
,
another
(
age
at
onset
,
55
years
old
)
showed
cerebellar
ataxia
and
pseudobulbar
signs
,
and
one
member
(
32
years
old
)
was
asymptomatic
.
Marked
atrophy
of
the
medulla
oblongata
and
spinal
cord
was
detected
in
the
two
symptomatic
patients
by
magnetic
resonance
imaging
(
MRI
)
.
However
,
in
the
asymptomatic
patient
,
cervicomedullary
atrophy
was
mild
.
Hyperintensity
signals
in
the
medulla
oblongata
were
detected
in
the
two
symptomatic
patients
,
but
not
in
the
asymptomatic
patient
.
In
addition
,
there
are
symmetrical
hyperintensity
signals
in
the
posterior
part
of
the
globus
pallidus
on
T
2
-
weighted
images
in
the
two
symptomatic
patients
,
which
are
rarely
observed
in
adult-onset
Alexander
disease
.
Molecular
genetic
analysis
revealed
a
novel
missense
mutation
(
p
.
D
78
N
)
in
the
glial
fibrillary
acidic
protein
(
GFAP
)
gene
in
this
family
.
The
typical
atrophy
of
the
medulla
oblongata
and
upper
cervical
cord
detected
by
MRI
is
the
diagnostic
feature
of
adult-onset
Alexander
disease
.
Genetic
analysis
of
the
GFAP
gene
is
recommended
for
all
patients
with
late-onset
progressive
ataxia
and
suspected
of
having
adult-onset
Alexander
disease
on
the
basis
of
MRI
findings
.
Additionally
,
these
characteristic
MRI
patterns
might
even
lead
to
the
identification
of
asymptomatic
cases
,
as
in
one
of
our
cases
.
Diseases
Validation
Diseases presenting
"spinal cord was detected in the two symptomatic patients by magnetic resonance imaging"
symptom
alexander disease
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