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Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
[x-linked adrenoleukodystrophy]
Neurologic
impairments
in
female
heterozygotes
for
X-
linked
Adrenoleukodystrophy
(
X-
ALD
)
are
poorly
understood
.
Our
aims
were
to
describe
the
neurological
and
neurophysiological
manifestations
of
a
cohort
of
X-
ALD
heterozygotes
,
and
to
correlate
them
with
age
,
disease
duration
,
mutations
,
X-
inactivation
and
serum
concentrations
of
a
marker
of
neuronal
damage
,
neuron-
specific
enolase
(
NSE
)
.
All
45
heterozygotes
identified
in
our
region
,
with
previous
VLCFA
and
molecular
diagnosis
,
were
invited
to
be
evaluated
through
myelopathy
scales
JOA
and
SSPROM
,
nerve
conduction
studies
and
somatosensory
evoked
responses
.
X
inactivation
pattern
was
tested
by
HUMARA
methylation
assay
.
Serum
NSE
was
measured
by
eletrochemiluminescense
.
Thirty
three
heterozygote
women
were
recruited
:
29
(
87
%
)
were
symptomatic
.
Symptomatic
and
asymptomatic
women
presented
different
m
±
sd
ages
(
43
.
9
±
10
.
2
versus
24
.
3
±
4
.
6
)
,
JOA
(
14
.
5
±
1
.
7
versus
16
.
6
±
0
.
2
)
and
SSPROM
(
86
.
6
±
7
.
9
versus
98
.
4
±
1
.
1
)
scores
(
p
<
0
.
05
)
.
Both
JOA
(
r
=
-
0
.
68
)
and
SSPROM
(
r
=
-
0
.
65
)
correlated
with
age
,
irrespectively
of
the
disease
status
(
p
=
0
.
0001
,
Spearman
)
.
Delayed
latencies
in
the
central
ascending
conduction
studies
on
the
lower
limbs
were
present
in
72
%
of
all
heterozygotes
,
and
correlated
with
SSPROM
(
r
=
-
0
.
47
,
p
=
0
.
018
,
Spearman
)
.
NSE
values
were
higher
in
heterozygote
than
in
control
women
(
12
.
9
±
7
and
7
.
2
±
7
ng
/
ml
,
p
=
0
.
012
,
Mann-
Whitney
U
)
.
Mutation
severity
and
inactivation
patterns
were
not
associated
with
neurologic
status
.
Neurologic
manifestations
,
clearly
related
to
age
,
were
quite
common
in
the
present
cohort
.
JOA
and
SSPROM
scales
were
able
to
discriminate
the
asymptomatic
from
the
symptomatic
heterozygotes
.
Both
scales
might
be
useful
tools
to
follow
disease
progression
,
in
future
studies
.
Diseases
Validation
Diseases presenting
"myelopathy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
homocystinuria without methylmalonic aciduria
neuralgic amyotrophy
proteus syndrome
sneddon syndrome
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated