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Axonopathy is a compounding factor in the pathogenesis of Krabbe disease.
[krabbe disease]
Loss
-of-function
of
the
lysosomal
enzyme
galactosyl-ceramidase
causes
the
accumulation
of
the
lipid
raft-associated
sphingolipid
psychosine
,
the
disruption
of
postnatal
myelination
,
neurodegeneration
and
early
death
in
most
cases
of
infantile
Krabbe
disease
.
This
work
presents
a
first
study
towards
understanding
the
progression
of
axonal
defects
in
this
disease
using
the
Twitcher
mutant
mouse
.
Axonal
swellings
were
detected
in
axons
within
the
mutant
spinal
cord
as
early
as
1
week
after
birth
.
As
the
disease
progressed
,
more
axonopathic
profiles
were
found
in
other
regions
of
the
nervous
system
,
including
peripheral
nerves
and
various
brain
areas
.
Isolated
mutant
neurons
recapitulated
axonal
and
neuronal
defects
in
the
absence
of
mutant
myelinating
glia
,
suggesting
an
autonomous
neuronal
defect
.
Psychosine
was
sufficient
to
induce
axonal
defects
and
cell
death
in
cultures
of
acutely
isolated
neurons
.
Interestingly
,
axonopathy
in
young
Twitcher
mice
occurred
in
the
absence
of
demyelination
and
of
neuronal
apoptosis
.
Neuronal
damage
occurred
at
later
stages
,
when
mutant
mice
were
moribund
and
demyelinated
.
Altogether
,
these
findings
suggest
a
progressive
dying-back
neuronal
dysfunction
in
Twitcher
mutants
.
Diseases
Validation
Diseases presenting
"of neuronal apoptosis"
symptom
krabbe disease
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