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Later onset phenotypes of Krabbe disease: results of the world-wide registry.
[krabbe disease]
The
majority
of
newborns
screening
positive
for
Krabbe
disease
have
not
exhibited
the
expected
early
infantile
phenotype
,
with
most
clinically
normal
despite
low
galactocerebrosidase
activity
and
two
mutations
.
Most
are
expected
to
develop
the
later
onset
phenotypes
.
The
World-
Wide
Krabbe
Registry
was
developed
in
part
to
expand
our
understanding
of
the
natural
history
of
these
rare
variants
.
As
of
June
2011
,
122
patients
were
enrolled
in
the
registry
:
62
%
manifested
early
infantile
onset
(
previously
reported
)
,
10
%
manifested
onset
at
7
-
12
months
(
late
infantile
)
,
22
%
manifested
onset
at
13
months
to
10
years
(
later
onset
)
,
and
5
%
manifested
adolescent
/
adult
onset
.
Data
on
disease
course
,
galactocerebrosidase
activity
,
DNA
mutations
,
and
results
of
neurodiagnostic
studies
were
obtained
from
questionnaires
and
medical
records
.
Initial
signs
(
late
infantile
)
included
loss
of
milestones
and
poor
feeding
,
whereas
later
onset
and
adolescent
/
adult
phenotypes
presented
with
changes
in
gait
.
Elevated
cerebrospinal
fluid
protein
and
abnormal
magnetic
resonance
imaging
results
were
present
in
most
,
but
not
all
,
patients
at
diagnosis
.
Phenotypic
variability
occurred
in
four
sibships
.
Five
-
year
and
10
-
year
survivals
for
all
later
onset
phenotypes
were
at
least
50
%
.
The
later
onset
Krabbe
phenotypes
differ
from
those
with
early
infantile
disease
,
but
no
specific
predictor
of
phenotype
was
identified
.
Diseases
Validation
Diseases presenting
"abnormal magnetic resonance imaging results were present in most"
symptom
krabbe disease
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