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History, genetic, and recent advances on Krabbe disease.
[krabbe disease]
Krabbe
disease
or
globoid
cell
leukodystrophy
is
one
of
the
classic
genetic
lysosomal
storage
diseases
with
autosomal
recessive
inheritance
that
affects
both
central
and
peripheral
nervous
systems
in
several
species
including
humans
,
rhesus
macaques
,
dogs
,
mice
,
and
sheep
.
Since
its
identification
in
1916
,
lots
of
scientific
investigations
were
made
to
define
the
cause
,
to
evaluate
the
molecular
mechanisms
of
the
damage
and
to
develop
more
efficient
therapies
inducing
clinical
benefit
and
ameliorating
the
patients
'
quality
of
life
.
This
manuscript
gives
a
historical
overview
and
summarizes
the
new
recent
findings
about
Krabbe
disease
.
Human
symptoms
and
phenotypes
,
gene
encoding
for
β-galactocerebrosidase
and
encoded
protein
were
described
.
Indications
about
the
classical
mutations
were
reported
and
some
specific
mutations
in
restricted
geographical
area
,
like
the
north
of
Catania
City
(
Italy
)
,
were
added
.
Briefly
,
here
we
present
a
mix
of
past
and
present
investigations
on
Krabbe
disease
in
order
to
update
the
knowledge
on
its
genetic
history
and
molecular
mechanisms
and
to
move
new
scientific
investigations
.
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krabbe disease
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