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Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
[x-linked adrenoleukodystrophy]
To
investigate
X-
linked
adrenoleukodystrophy
in
an
unselected
population
,
we
performed
a
population
based
,
cross-sectional
prevalence
study
,
supplemented
by
a
retrospective
study
of
deceased
subjects
.
Sixty
-
three
subjects
(
34
males
,
29
females
)
belonging
to
22
kindreds
were
included
.
Thirty
-
nine
subjects
(
13
males
,
26
females
)
were
alive
,
and
24
(
21
males
,
3
females
)
were
deceased
on
the
prevalence
day
.
The
point
prevalence
of
X-
linked
adrenoleukodystrophy
in
Norway
on
July
1
,
2011
,
was
0
.
8
per
100
,
000
inhabitants
.
The
incidence
at
birth
in
the
period
1956
-
1995
was
1
.
6
per
100
,
000
inhabitants
.
An
age-dependent
penetrance
was
observed
among
males
and
females
,
with
more
severe
phenotypes
appearing
with
rising
age
.
Only
5
%
of
deceased
males
had
not
developed
cerebral
leukodystrophy
.
No
female
older
than
50
years
was
neurologically
intact
.
Sixteen
mutations
in
the
ABCD
1
gene
were
identified
.
De
novo
mutations
were
found
in
19
%
of
probands
.
The
frequency
of
X-
linked
adrenoleukodystrophy
was
lower
in
Norway
than
reported
in
the
literature
.
A
more
severe
natural
course
than
previously
reported
was
observed
,
indicating
a
need
for
better
follow-up
of
both
male
and
female
patients
.
Given
the
high
rate
of
de
novo
mutations
,
identification
programs
such
as
newborn
screening
may
be
required
to
offer
timely
treatment
to
all
patients
.
Diseases
Validation
Diseases presenting
"severe phenotypes"
symptom
adrenomyeloneuropathy
alpha-thalassemia
benign recurrent intrahepatic cholestasis
canavan disease
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
holt-oram syndrome
kallmann syndrome
monosomy 21
neonatal adrenoleukodystrophy
x-linked adrenoleukodystrophy
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