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Adult or late-onset triple A syndrome: case report and literature review.
[triple a syndrome]
Triple
A
syndrome
is
caused
by
mutations
in
the
gene
encoding
ALADIN
,
leading
to
achalasia
,
alacrima
and
addisonism
.
Neurologic
manifestations
of
the
disease
include
motor
neuron
disease-like
presentations
,
motor
-
sensory
or
autonomic
neuropathy
,
optic
atrophy
,
cerebellar
ataxia
,
Parkinsonism
,
and
mild
dementia
.
We
report
a
60
-
year
-old
Japanese
man
with
triple
A
syndrome
.
He
was
born
to
non-consanguineous
parents
.
He
underwent
a
surgical
operation
for
achalasia
at
age
40
,
and
thereafter
,
he
developed
a
slowly
progressive
gait
disturbance
.
Neurological
examinations
at
age
60
revealed
limb
muscle
wasting
and
weakness
with
pyramidal
tract
signs
,
distal
-dominant
sensory
disturbance
,
optic
atrophy
,
and
autonomic
dysfunction
.
Alacrima
was
detected
using
Schirmer
test
.
All
of
these
features
were
consistent
with
typical
triple
A
syndrome
.
He
lacked
adrenal
insufficiency
that
is
frequently
observed
in
patients
with
the
classic
phenotype
of
triple
A
syndrome
.
His
sural
nerve
biopsy
showed
a
moderate
loss
of
myelinated
fibers
and
hypomyelination
.
He
was
homozygous
for
a
missense
mutation
,
p
.
R
155
H
,
in
the
disease-causing
gene
,
AAAS
.
Seven
patients
with
genetically-confirmed
,
adult
or
late-onset
triple
A
syndrome
,
including
ours
,
have
been
reported
to
date
.
All
the
patients
showed
upper
and
lower
motor
neuron
signs
(
100
%
)
,
while
sensory
disturbance
(
29
%
)
and
autonomic
dysfunction
(
57
%
)
were
less
frequent
.
Careful
assessment
for
alacrima
followed
by
molecular
genetic
analysis
of
AAAS
should
be
considered
in
patients
who
show
a
combined
phenotype
of
motor
neuron
disease
and
sensory
/
autonomic
disturbance
,
even
in
elderly
patients
.
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