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Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.
[alexander disease]
Alexander
disease
(
AxD
)
is
a
rare
neurodegenerative
disorder
.
Most
patients
with
AxD
have
a
de
novo
dominant
missense
mutation
in
the
glial
fibrillary
acidic
protein
(
GFAP
)
gene
.
Patients
with
late-onset
AxD
exhibit
a
more
variable
onset
and
severity
than
patients
with
early
-onset
AxD
,
suggesting
the
existence
of
factors
that
modify
the
clinical
phenotype
of
late-onset
AxD
.
A
-
250
-
bp
C
/
A
single
-nucleotide
polymorphism
(
SNP
)
of
the
GFAP
promoter
(
rs
2070935
)
in
the
activator
protein-
1
binding
site
is
a
candidate
factor
for
modification
of
the
clinical
phenotype
.
We
analyzed
the
SNP
in
10
patients
with
late-onset
AxD
and
evaluated
the
effects
of
the
SNP
on
the
clinical
course
of
late-onset
AxD
.
Three
of
four
cases
with
the
C
/
C
genotype
lost
the
ability
to
walk
in
their
30
s
or
40
s
,
whereas
all
six
cases
with
the
other
genotypes
retained
the
ability
to
walk
throughout
their
30
s
.
The
age
of
onset
in
patients
with
the
C
/
C
genotype
was
significantly
earlier
than
in
patients
with
the
other
genotypes
(
P
<
0
.
05
)
.
A
more
severe
phenotype
was
observed
in
the
patient
in
whom
the
C
allele
of
rs
2070935
was
in
cis
with
the
GFAP
mutation
compared
with
the
patient
in
whom
the
C
allele
of
rs
2070935
was
in
trans
with
the
GFAP
mutation
.
Our
investigation
revealed
the
possibility
that
the
C
/
C
genotype
at
rs
2070935
of
the
GFAP
promoter
in
late-onset
AxD
was
associated
with
an
earlier
onset
and
a
more
rapid
progression
of
ambulatory
disability
compared
with
the
other
genotypes
.
Diseases
Validation
Diseases presenting
"a more rapid progression of ambulatory disability compared with the other genotypes"
symptom
alexander disease
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