Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Adult-onset hereditary leukoencephalopathy: classification and molecular basis of the disorder].
[alexander disease]
Adult-onset
leukoencephalopathy
involving
the
white
matter
of
the
brain
is
a
heterogeneous
disorder
that
exhibits
a
wide
range
of
clinical
manifestations
.
Recent
advances
in
molecular
genetics
enable
gene
-based
diagnosis
of
some
forms
of
adult-onset
leukoencephalopathy
.
In
this
review
,
the
classification
of
adult-onset
leukoencephalopathy
based
on
molecular
genetic
findings
is
proposed
.
The
autosomal
dominant
forms
of
adult-onset
leukoencephalopathy
include
hereditary
diffuse
leukoencephalopathy
with
spheroids
(
HDLS
)
,
autosomal
dominant
adult-onset
leukoencephalopathy
(
ALDL
)
,
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
,
and
Alexander
disease
.
The
autosomal
recessive
forms
of
adult-onset
leukoencephalopathy
include
cerebral
autosomal
recessive
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CARASIL
)
,
vanishing
white
matter
(
VWM
)
with
leukoencephalopathy
,
Nasu-
Hakola
disease
,
and
metachromatic
leukodystrophy
(
MDL
)
.
X-
chromosome-linked
disorders
include
fragile
X-
associated
tremor
and
ataxia
syndrome
(
FXTAS
)
and
adrenoleukodystrophy
(
ALD
)
.
Identification
of
the
genes
responsible
for
adult-onset
leukoencephalopathy
provides
an
important
clue
for
elucidation
of
molecular
pathophysiology
underlying
white
matter
disorders
.
One
example
is
the
identification
of
mutations
in
colony
stimulating
factor
1
receptor
(
CSF-
1
R
)
in
patients
with
HDLS
.
Missense
and
splice
site
mutations
have
been
found
in
the
tyrosine
kinase
domain
of
CSF-
1
R
.
CSF-
1
R
is
highly
expressed
in
microglia
in
the
brain
.
It
has
been
demonstrated
that
mice
depleted
of
CSF-
1
R
exhibit
loss
of
microglia
in
the
brain
.
In
addition
,
stimulation
of
IL
-
34
,
a
ligand
of
CSF-
1
R
,
induces
proliferation
and
activation
of
microglia
.
These
findings
raise
an
intriguing
possibility
that
dysfunction
of
microglia
may
play
a
role
in
the
pathogenesis
of
white
matter
lesions
occurring
in
patients
with
HDLS
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated