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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
"first study"
symptom
achondroplasia
acute rheumatic fever
alexander disease
aniridia
coats disease
congenital adrenal hyperplasia
cowden syndrome
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
krabbe disease
locked-in syndrome
oculocutaneous albinism
primary effusion lymphoma
waldenström macroglobulinemia
wiskott-aldrich syndrome
zellweger syndrome
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