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Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
[krabbe disease]
Krabbe
leukodystrophy
(
KD
)
is
a
neurodegenerative
lysosomal
disorder
caused
by
mutations
in
the
galactocerebrosidase
(
GALC
)
gene
.
Different
clinical
forms
are
described
based
on
the
age
at
onset
.
In
reported
series
,
the
early
infantile
form
(
EIKD
)
accounts
for
more
than
90
%
of
the
cases
.
The
rarer
late
onset
forms
(
LOKD
)
become
manifest
later
than
6
months
up
to
the
adult
age
.
We
report
clinical
,
imaging
,
mutational
analysis
and
geographic
data
in
a
large
cohort
of
individuals
with
Krabbe
disease
examined
over
a
30
-
year
period
.
Retrospective
analyses
of
disease
onset
and
long
-term
follow-up
were
conducted
in
26
KD
patients
.
Molecular
analysis
was
performed
in
12
patients
and
their
families
.
Nine
cases
had
EIKD
,
and
17
LOKD
,
accounting
for
two
thirds
of
our
series
.
No
correlation
was
found
between
enzymatic
activity
,
onset
age
and
disease
progression
.
Despite
common
geographical
origin
,
only
in
a
few
cases
could
parental
consanguinity
be
proven
.
The
p
.
Gly
41
S
er
mutation
was
associated
with
longer
survival
.
A
wide
spectrum
of
LOKD
is
found
despite
similar
genotype
.
Although
current
knowledge
about
onset
age
,
residual
enzyme
activity
and
molecular
analysis
still
fail
to
allow
the
identification
of
patient
candidates
for
treatment
,
this
information
is
valuable
for
long
-term
outcome
prediction
and
could
lead
to
reconsideration
of
inclusion
criteria
for
bone
marrow
transplant
(
BMT
)
or
other
future
therapeutic
approaches
.