Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease).
[krabbe disease]
To
characterize
the
clinical
signs
of
globoid
cell
leukodystrophy
(
GLD
)
in
Australian
Kelpies
from
a
working
line
(
AWKs
)
and
determine
whether
an
association
existed
between
these
signs
and
degrees
of
demyelination
and
inflammatory
responses
in
affected
brains
.
Case-control
study
.
4
AWKs
with
GLD
(
cases
)
and
7
unaffected
young
adult
dogs
of
mixed
breeding
(
controls
)
.
Clinical
records
were
reviewed
for
information
on
signalment
,
and
samples
of
neurologic
tissues
underwent
histological
processing
,
immunohistochemical
staining
,
and
image
analysis
.
Findings
were
compared
between
case
and
control
dogs
.
The
4
affected
AWKs
had
progressive
ataxia
,
tremors
,
and
paresis
and
low
leukocyte
activity
of
galactosylceramidase
,
the
lysosomal
enzyme
deficient
in
GLD
.
Image
analysis
of
neurologic
tissue
revealed
globoid
cells
characteristic
of
GLD
and
substantial
demyelination
in
the
peripheral
and
central
nervous
systems
,
relative
to
that
in
neurologic
tissue
from
control
dogs
.
This
was
accompanied
by
microglial
activation
,
reactive
astrocyto-sis
,
and
axonal
spheroid
formation
.
The
demyelination
,
inflammatory
responses
,
and
axo-nal
spheroids
evident
in
the
AWKs
were
consistent
with
the
clinical
signs
of
peripheral
nerve
,
spinal
cord
,
and
cerebellar
dysfunction
.
Because
GLD
is
an
autosomal
recessive
inherited
disease
,
with
considerable
overlap
in
galactosylceramidase
activity
existing
among
heterozygotes
and
noncarriers
,
development
of
a
molecular
test
is
important
for
preventing
the
perpetuation
of
this
disease
in
the
Australian
Kelpie
breed
.
Diseases
Validation
Diseases presenting
"relative to that in neurologic tissue from control dogs"
symptom
krabbe disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom