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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
"central nervous systems"
symptom
cohen syndrome
krabbe disease
triple a syndrome
zellweger syndrome
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