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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
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated