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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
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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