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Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.
[cadasil]
Adult-onset
leukoencephalopathies
are
clinically
and
pathologically
heterogeneous
diseases
,
characterized
by
overlapping
clinical
and
neuroradiological
features
and
a
difficult
diagnostic
process
.
Nevertheless
,
knowledge
of
the
metabolic
and
genetic
basis
of
leukoencephalopathies
is
constantly
increasing
.
This
article
provides
an
overview
of
currently
known
leukoencephalopathies
in
adulthood
,
emphasizing
,
in
addition
to
the
classical
forms
,
their
atypical
clinical
presentations
.
In
particular
,
we
review
the
clinical
spectrum
and
the
molecular
pathogenesis
of
certain
adult-onset
leukoencephalopathies
,
including
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
,
cerebral
autosomal
recessive
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CARASIL
)
,
cerebroretinal
microangiopathy
with
calcifications
and
cysts
(
CRMCC
)
,
hereditary
diffuse
leukoencephalopathy
with
spheroids
(
HDLS
)
,
fragile
X-
associated
tremor
/
ataxia
syndrome
(
FXTAS
)
,
vanishing
white
matter
disease
(
VWM
)
,
autosomal
dominant
leukodystrophy
due
to
lamin
B
1
duplication
(
ADLD
)
,
and
vascular
leukoencephalopathy
mapping
to
chromosome
20
q
13
.
Diseases
Validation
Diseases presenting
"including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"
symptom
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