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Our Project
Our Team
[Clinical and genetic study of twelve Chinese patients with Alexander disease].
[alexander disease]
To
delineate
the
phenotype
and
genotype
characteristics
in
12
Chinese
children
with
Alexander
disease
(
AD
)
,
which
is
helpful
for
the
molecular
diagnosis
and
genetic
counseling
in
China
.
Clinical
diagnosis
of
AD
was
based
on
MRI
criteria
proposed
by
van
der
Knaarp
in
2001
.
Included
AD
patients
were
followed
up
for
0
.
50
-
3
.
67
years
.
Mutations
in
GFAP
were
detected
by
DNA
sequencing
.
The
12
cases
of
AD
were
clinically
diagnosed
.
Age
of
first
visit
was
4
.
87
years
(
0
.
75
-
12
.
00
years
)
,
with
3
types
of
chief
complaints
:
developmental
delay
in
3
,
recurrent
seizures
in
7
,
unable
to
walk
after
falling
in
2
.
Average
head
circumference
was
52
.
34
cm
(
44
-
58
cm
)
,
which
larger
than
age-matched
average
by
6
.
45
%
(
1
.
80
%
-
13
.
95
%
)
.
On
the
first
visit
,
scaling
according
to
Gross
motor
functional
classification
system
(
GMFCS
)
was
performed
,
with
GMFCSI
in
8
,
II
in
3
,
V
in
1
.
Mild
to
severe
cognitive
dysfunction
were
found
in
8
,
and
seizures
in
11
cases
.
The
12
patients
were
followed
up
for
0
.
50
-
3
.
67
years
,
their
motor
and
cognitive
function
remained
stable
.
Episodic
aggravations
provoked
by
fever
or
falling
were
observed
in
5
cases
(
41
.
67
%
)
.
Heterozygous
missense
mutations
of
GFAP
were
detected
in
12
patients
.
All
mutations
were
de
novo
;
3
out
of
10
mutations
identified
were
novel
.
R
79
and
R
239
were
hot
mutations
,
which
was
consistent
with
previous
reports
.
Mutations
were
located
in
exon
1
in
8
cases
.
The
phenotype
in
these
patients
is
characterized
by
slower
progression
compared
with
reports
from
other
population
and
high
incidence
of
seizures
.
And
episodic
aggravations
provoked
by
fever
or
falling
were
more
common
.
The
genotype
characteristics
are
consistent
with
previous
reports
.
The
results
of
this
research
expanded
the
number
of
patients
with
Alexander
disease
found
to
have
GFAP
coding
mutations
in
China
.
Diseases
Validation
Diseases presenting
"head circumference"
symptom
achondroplasia
alexander disease
classical phenylketonuria
congenital diaphragmatic hernia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
phenylketonuria
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