Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
[x-linked adrenoleukodystrophy]
In
chronic
progressive
spasticity
of
the
legs
many
rare
causes
have
to
be
considered
,
including
leukodystrophies
due
to
neurometabolic
disorders
.
To
determine
the
frequency
of
leukodystrophies
and
the
phenotypic
spectrum
patients
with
cryptic
spasticity
of
the
legs
were
screened
for
underlying
neurometabolic
abnormalities
.
Seventy
-
six
index
patients
presenting
with
adult-onset
lower
limb
spasticity
of
unknown
cause
consistent
with
autosomal
recessive
inheritance
were
included
in
this
study
.
Screening
included
serum
levels
of
very
long
chain
fatty
acids
for
X-
linked
adrenoleukodystrophy
/
adrenomyeloneuropathy
and
lysosomal
enzyme
activities
in
leukocytes
for
metachromatic
leukodystrophy
,
GM
1
-
gangliosidosis
,
Tay-
Sachs
,
Sandhoff
and
Krabbe
disease
.
If
clinical
evidence
was
indicative
of
other
types
of
leukodystrophies
,
additional
genetic
testing
was
conducted
.
Clinical
characterization
included
neurological
and
psychiatric
features
and
magnetic
resonance
imaging
.
Basic
screening
detected
one
index
patient
with
metachromatic
leukodystrophy
,
two
patients
with
Krabbe
disease
and
four
patients
with
adrenoleukodystrophy
/
adrenomyeloneuropathy
.
Additional
genetic
testing
revealed
one
patient
with
vanishing
white
matter
disease
.
These
patients
accounted
for
an
overall
share
of
11
%
of
leukodystrophies
.
One
patient
with
Krabbe
disease
and
three
patients
with
adrenoleukodystrophy
/
adrenomyeloneuropathy
presented
with
pure
spasticity
of
the
lower
limbs
,
whilst
one
patient
each
with
Krabbe
disease
,
metachromatic
leukodystrophy
and
adrenoleukodystrophy
/
adrenomyeloneuropathy
showed
additional
complicating
symptoms
.
Adult
patients
presenting
with
cryptic
spasticity
of
the
legs
should
be
screened
for
underlying
X-
linked
adrenoleukodystrophy
/
adrenomyeloneuropathy
and
lysosomal
disorders
,
irrespective
of
the
presence
of
additional
complicating
symptoms
.
Leukodystrophies
may
manifest
as
late
as
the
sixth
decade
and
hyperintensity
of
cerebral
white
matter
on
magnetic
resonance
FLAIR
images
is
not
obligatory
.
Diseases
Validation
Diseases presenting
"spasticity"
symptom
adrenomyeloneuropathy
alexander disease
congenital toxoplasmosis
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
