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Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms.
[cadasil]
Inherited
white
matter
(
WM
)
disorders
include
a
heterogenous
group
of
disorders
affecting
brain
white
matter
and
associated
with
myelin
,
axonal
and
glial
cells
or
vascular
pathology
.
Often
a
wide
range
of
overlapping
neurological
manifestations
possibly
associated
with
variable
systemic
involvement
are
found
in
these
disorders
making
clinical
diagnosis
challenging
.
Advances
in
molecular
genetics
enabled
the
identification
of
the
responsible
genes
of
an
increasing
number
of
previously
undefined
forms
.
This
review
focuses
on
genetic
leukoencephalopathies
with
exclusive
adulthood
presentation
,
most
of
which
have
an
autosomal
dominant
inheritance
.
The
most
common
forms
are
related
to
vascular
pathology
,
such
as
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
,
cerebral
autosomal
recessive
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CARASIL
)
,
COL
4
A
1
-
related
leukoencephalopathy
,
retinal
vasculopathy
with
cerebral
leukodystrophy
(
RVCL
)
,
and
polycystic
lipomembranous
osteodysplasia
with
sclerosing
leukoencephalopathy
(
PLOSL
)
.
Also
cerebroretinal
microangiopathy
with
cysts
and
calcifications
(
CRMCC
)
,
which
presents
a
prevalent
infantile
onset
,
will
be
detailed
because
of
the
vascular
based
myelin
damage
and
the
recent
genetic
characterization
.
Other
adult
onset
(
AO
)
leukoencephalopathies
,
such
as
the
recently
genetically
defined
hereditary
diffuse
leukoencephalopathy
with
axonal
spheroids
(
HDLS
)
,
adult-onset
autosomal
dominant
leukodystrophy
(
ADLD
)
due
to
LMNB
1
duplication
,
adult
polyglucosan
body
disease
(
APBD
)
,
and
fragile
X-
associated
tremor
/
ataxia
syndrome
(
FXTAS
)
will
be
detailed
shortly
.
Short
notes
on
the
clinical
and
MRI
features
of
late
onset
variants
of
the
classical
infantile
-onset
leukodystrophies
mostly
related
to
metabolic
disorders
will
also
be
given
.
Finally
,
palliative
,
curative
and
experimental
treatment
options
are
here
summarized
.
Diseases
Validation
Diseases presenting
"prevalent infantile onset"
symptom
cadasil
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