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Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
[alexander disease]
Glial
fibrillary
acidic
protein
(
GFAP
)
mutation
has
been
reported
in
Alexander
disease
.
We
report
a
31
-
year
-old
woman
suffering
from
Alexander
disease
with
a
V
87
L
mutation
in
GFAP
.
She
showed
psychomotor
regression
and
a
history
of
seizures
,
in
addition
to
pendular
nystagmus
,
dysarthria
,
spastic
gait
,
and
bladder
dysfunction
.
Brain
magnetic
resonance
imaging
(
MRI
)
showed
atrophy
of
the
medulla
oblongata
and
mild
cervical
cord
atrophy
,
deep
white
matter
abnormalities
,
periventricular
rim
,
and
signal
changes
of
the
medulla
oblongata
and
dentate
hilum
.
Sequence
analysis
of
her
GFAP
gene
showed
a
heterozygous
c
.
273
G
>
C
mutation
predictive
of
a
p
.
V
87
L
amino
acid
substitution
.
We
concluded
that
she
was
actually
affected
with
Alexander
disease
.
Twenty
months
later
she
fell
down
and
sustained
a
head
contusion
.
Urgent
head
computed
tomography
(
CT
)
showed
calcification
in
the
subcortical
and
cortical
regions
,
which
may
relate
to
the
psychomotor
regression
and
history
of
seizures
.
Calcification
in
the
subcortical
and
cortical
regions
on
head
CT
has
not
been
reported
in
Alexander
disease
;
this
may
be
associated
with
a
V
87
L
mutation
in
GFAP
.
Diseases
Validation
Diseases presenting
"which may relate to the psychomotor regression and history of seizures"
symptom
alexander disease
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