Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
[adrenomyeloneuropathy]
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
.
