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The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).
[adrenomyeloneuropathy]
To
elucidate
the
phenotype
and
the
genotype-phenotype
correlations
in
Chinese
patients
with
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
.
Clinical
features
of
40
Chinese
patients
with
X-
ALD
were
studied
and
mutation
spectrums
were
investigated
by
polymerase
chain
reaction
(
PCR
)
and
sequencing
.
Among
these
patients
,
four
were
siblings
from
two
unrelated
families
,
the
others
were
unrelated
.
There
were
31
cases
with
childhood
cerebral
(
CCALD
)
,
8
cases
with
adolescent
cerebral
(
ACALD
)
and
1
case
with
adrenomyeloneuropathy
(
AMN
)
.
Visual
impairment
,
which
presented
in
12
cases
(
30
%
)
,
was
the
most
common
initial
symptom
.
Nine
(
69
%
)
of
13
cases
who
had
hydrocortisone
and
ACTH
measured
showed
adrenal
insufficiency
.
By
follow-up
date
,
19
cases
(
47
.
5
%
)
were
dead
.
The
interval
from
onset
to
death
varied
from
1
to
6
years
and
the
average
were
3
.
3
years
.
The
mean
age
at
death
was
10
.
5
years
.
Eleven
cases
(
27
.
5
%
)
were
in
vegetable
state
.
The
mean
interval
from
onset
to
apparently
vegetable
state
was
2
.
8
years
(
range
from
1
to
6
years
)
.
Four
cases
had
progressive
neurological
disability
.
Four
cases
were
lost
follow-up
.
One
case
with
CCALD
and
one
case
with
ACALD
progressed
slowly
.
The
courses
of
the
disease
of
these
two
patients
were
5
years
and
15
years
respectively
.
Thirty
five
mutations
were
identified
in
40
cases
.
Most
were
located
within
exon
1
-
3
(
40
%
,
16
/
40
)
and
exon
6
-
8
(
42
%
,
17
/
40
)
.
There
is
a
distinct
clustering
of
missense
mutations
in
exon
6
(
17
%
,
7
/
40
)
.
Five
types
of
mutations
were
associated
with
CCALD
,
three
with
ACALD
and
a
missense
mutation
was
identified
in
the
patients
with
AMN
.
The
two
patients
with
long
disease
courses
had
a
missense
mutation
c
.
1559
T
>
A
and
a
nonsense
mutation
c
.
1785
G
>
A
respectively
.
The
siblings
with
similar
manifestations
and
onset
age
were
observed
in
two
families
,
whose
mutations
were
c
.
887
A
>
G
and
c
.
1028
G
>
T
.
The
phenotypes
,
disease
severity
and
rate
of
neurodegeneration
could
not
be
predicted
by
the
nature
of
mutations
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated