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Head trauma can initiate the onset of adreno-leukodystrophy.
[adrenomyeloneuropathy]
X-
linked
adreno-
leukodystrophy
and
its
adult
variant
,
adrenomyeloneuropathy
,
are
caused
by
mutations
in
ABCD
1
that
encodes
a
peroxisomal
membrane
protein
of
unknown
physiological
significance
.
In
spite
of
identical
mutations
,
they
can
have
markedly
divergent
neurological
and
neuropathologic
characteristics
.
Adreno-
leukodystrophy
classically
presents
in
normal
boys
with
mild
neuropsychiatric
features
,
which
progress
to
frank
neurological
signs
,
the
vegetative
state
and
death
in
approximately
three
years
.
Adrenomyeloneuropathy
typically
affects
young
men
with
spastic
paraparesis
and
sensory
ataxia
that
can
progress
over
decades
.
The
neuropathologic
correlate
for
adreno-
leukodystrophy
is
severe
inflammatory
demyelination
of
posterior
cerebral
white
matter
,
while
a
chronic
distal
axonopathy
of
spinal
cord
and
peripheral
nerve
occurs
in
adrenomyeloneuropathy
.
Consequently
,
both
modifier
genes
and
environmental
factors
have
been
implicated
in
their
pathogeneses
.
We
report
five
cases
of
adreno-
leukodystrophy
whose
onsets
were
initiated
by
moderate
to
severe
head
trauma
,
two
of
whom
were
conversions
from
adrenomyeloneuropathy
.
Their
clinical
courses
were
rapidly
incapacitating
,
short
(
i
.
e
.
,
weeks
to
a
few
years
)
and
fatal
due
to
marked
cerebral
inflammatory
demyelination
.
These
cases
,
in
concert
with
several
previous
reports
,
indicate
that
head
trauma
is
one
environmental
factor
that
can
have
a
profoundly
deleterious
effect
on
those
genetically
at
risk
for
,
or
with
milder
clinical
phenotypes
of
,
this
disease
.
Avoidance
of
potential
head
trauma
and
a
rapid
response
to
episodes
of
moderate
to
severe
head
trauma
in
this
patient
population
seem
prudent
.
Diseases
Validation
Diseases presenting
"indicate that head trauma is one environmental factor that can have a profoundly deleterious effect on those genetically at risk for"
symptom
adrenomyeloneuropathy
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