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Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease.
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Atrophy
of
the
pontine
tegmentum
and
facial
colliculus
is
a
characteristic
pathological
feature
of
Machado-
Joseph
disease
.
We
assessed
whether
this
finding
can
be
detected
by
conventional
brain
magnetic
resonance
imaging
.
A
total
of
17
patients
with
genetically
confirmed
Machado-
Joseph
disease
,
15
disease
controls
(
spinocerebellar
ataxia
type
6
and
dentatorubral-pallidoluysian
atrophy
)
,
and
17
normal
subjects
were
examined
using
a
1
.
5
-
Tesla
magnetic
resonance
imaging
scanner
.
The
widths
of
the
facial
colliculus
,
pontine
tegmentum
,
and
pontine
base
and
the
area
of
the
fourth
ventricle
were
measured
on
axial
T
2
-
weighted
imaging
.
Pathological
examination
was
performed
in
9
Machado-
Joseph
disease
patients
.
In
addition
,
visual
inspection
of
the
facial
colliculus
was
evaluated
by
receiver
operating
characteristic
analysis
.
The
width
of
the
facial
colliculus
was
significantly
smaller
in
Machado-
Joseph
disease
patients
(
0
.
37
±
0
.
16
mm
;
mean
±
standard
deviation
)
than
in
normal
subjects
(
0
.
73
±
0
.
30
mm
;
P
<
.
01
)
,
whereas
the
width
of
the
pontine
tegmentum
was
smaller
in
both
Machado-
Joseph
disease
(
4
.
85
±
0
.
58
mm
)
and
dentatorubral-pallidoluysian
atrophy
(
4
.
72
±
0
.
59
)
patients
than
in
normal
subjects
(
6
.
35
±
0
.
74
mm
;
P
<
.
01
)
.
Visual
evaluation
of
the
facial
colliculus
showed
sufficient
area
under
the
receiver
operating
characteristic
curves
to
differentiate
Machado-
Joseph
disease
from
dentatorubral-pallidoluysian
atrophy
(
0
.
78
)
and
spinocerebellar
ataxia
type
6
(
0
.
87
)
.
Pathological
evaluation
showed
significant
atrophy
of
the
facial
colliculus
in
all
Machado-
Joseph
disease
patients
.
Atrophy
of
the
facial
colliculus
is
a
feasible
magnetic
resonance
imaging
finding
for
diagnosing
Machado-
Joseph
disease
,
and
it
is
easily
found
as
a
flattening
of
the
fourth
ventricular
floor
.