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Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.
[alexander disease]
Alexander
disease
is
a
rare
neurodegenerative
leucoencephalopathy
caused
by
de
novo
mutations
in
the
GFAP
gene
.
Infantile
,
juvenile
,
and
adult
subtypes
have
been
described
and
the
clinical
and
radiological
phenotypes
are
broad
.
Here
we
report
on
a
single
case
of
juvenile
-onset
Alexander
disease
associated
with
a
novel
frameshift
mutation
in
the
GFAP
gene
.
The
8
-
year
-old
male
patient
had
a
relatively
mild
clinical
phenotype
characterized
by
dystonia
,
intermittent
episodes
of
raised
intracranial
pressure
,
and
characteristic
radiological
changes
.
He
also
presented
with
the
additional
and
to
our
knowledge
previously
unreported
,
neuroimaging
finding
of
periventricular
calcification
.
We
postulate
that
in
children
with
leucoencephalopathy
and
periventricular
calcification
of
undetermined
aetiology
,
the
diagnosis
of
Alexander
disease
should
be
considered
.
If
the
magnetic
resonance
imaging
findings
are
compatible
with
Alexander
disease
,
then
DNA
analysis
of
the
GFAP
gene
should
be
performed
even
if
the
full
criteria
for
a
neuroradiological
diagnosis
are
not
met
.
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Validation
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"single case"
symptom
alexander disease
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