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Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
[krabbe disease]
A
link
between
lysosomal
storage
diseases
(
LSDs
)
and
neurodegenerative
disorders
associated
with
accumulation
of
presynaptic
protein
alpha-synuclein
has
been
shown
.
Particularly
,
Gaucher
disease
(
GD
)
patients
with
a
deficiency
of
the
lysosomal
enzyme
glucocerebrosidase
(
GBA
)
and
carriers
of
GBA
mutations
are
at
increased
risk
of
Parkinson
's
disease
(
PD
)
.
It
remains
unclear
whether
this
link
is
due
to
increased
alpha-synuclein
oligomerization
.
Here
we
show
that
level
of
oligomeric
alpha-synuclein
form
,
associated
with
PD
development
,
is
increased
in
plasma
of
GD
patients
(
n
=
41
,
median
=
22
.
9
pg
/
mL
,
range
1
.
57
-
444
.
58
pg
/
mL
;
controls
(
n
=
40
,
median
=
6
.
02
pg
/
mL
,
range
1
.
05
-
103
.
14
pg
/
mL
,
p
<
0
.
0001
)
.
This
difference
is
absent
in
GD
patients
receiving
enzyme
replacement
therapy
(
ERT
)
for
more
than
5
years
.
Moreover
,
the
levels
of
alpha-synuclein
oligomers
in
plasma
are
also
higher
in
patients
with
other
LSDs
(
Niemann-
Pick
type
C
,
Krabbe
disease
,
Wolman
disease
)
compared
to
the
median
value
in
controls
.
Therefore
,
we
suggest
that
mutations
in
the
GBA
gene
and
at
least
in
several
other
LSDs
genes
may
be
associated
with
an
increase
in
oligomeric
alpha-synuclein
in
plasma
.
ERT
applied
for
recovering
of
GBA
functions
in
GD
treatment
might
decrease
formation
of
plasma
oligomeric
alpha-synuclein
.
Diseases
Validation
Diseases presenting
"oligomeric alpha-synuclein form"
symptom
krabbe disease
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