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[Electroencephalographic changes in sisters with infantile-onset dentatorubral-pallidoluysian atrophy (DRPLA)].
[]
We
report
the
clinical
course
and
results
of
electroencephalographic
(
EEG
)
examinations
in
2
sisters
with
infantile
dentatorubral
pallidoluysian
atrophy
(
DRPLA
)
.
Typical
development
was
seen
until
the
age
of
6
months
.
From
that
age
,
however
,
development
was
delayed
.
The
elder
sister
experienced
astatic
seizure
at
the
age
of
3
years
.
She
began
to
deteriorate
and
had
difficulty
in
controlling
her
body
movement
at
the
age
of
3
years
and
7
months
.
Magnetic
resonance
imaging
revealed
marked
cerebellar
atrophy
and
genetic
analysis
of
the
DRPLA
gene
led
to
a
diagnosis
of
DRPLA
.
Repeat
size
of
the
CAG
base
sequence
was
86
/
19
.
Neurological
deterioration
was
rapid
and
controlling
convulsions
using
antiepileptic
drugs
was
difficult
.
EEG
was
characterized
by
high
-voltage
slow
waves
and
poor
development
of
basic
wave
through
the
follow-up
period
.
In
contrast
,
the
younger
sister
showed
only
mild
developmental
delay
,
and
could
stand
independently
at
the
2
years
and
9
months
.
Repeat
size
of
the
CAG
base
sequence
was
79
/
11
.
Myoclonic
seizures
developed
at
4
years
and
7
months
,
but
have
been
well
controlled
using
sodium
valproate
.
EEG
showed
diffuse
3
-
4
Hz
spike-and-wave
complexes
that
were
rather
different
from
the
findings
in
her
elder
sister
.
