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Focal central white matter lesions in Alexander disease.
[alexander disease]
Alexander
disease
is
a
neurodegenerative
disorder
of
the
central
white
matter
caused
by
dominant
mutations
in
GFAP
,
the
gene
encoding
glial
fibrillary
acidic
protein
.
Magnetic
resonance
imaging
pattern
recognition
studies
have
established
characteristic
radiologic
phenotypes
for
this
disorder
.
In
some
cases
,
however
,
genetically
confirmed
cases
do
not
express
these
features
,
and
several
reports
have
identified
"
atypical
"
radiologic
findings
in
Alexander
disease
patients
.
Here
,
the
authors
report
3
genetically
confirmed
Alexander
disease
cases
with
focal
central
white
matter
lesions
that
,
upon
longitudinal
clinical
and
radiologic
evaluation
,
appear
to
reflect
an
atypical
Alexander
disease
magnetic
resonance
imaging
phenotype
and
not
another
pathophysiologic
process
such
as
encephalitis
,
infarction
,
or
neoplasm
.
Diseases
Validation
Diseases presenting
"central white matter"
symptom
alexander disease
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
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