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Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.
[cadasil]
To
describe
parkinsonism
as
a
clinical
manifestation
of
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
.
We
report
5
patients
carrying
the
R
1006
C
mutation
in
the
exon
19
of
NOTCH
3
gene
.
All
cases
presented
late
onset
,
slowly
progressive
parkinsonism
,
not
responsive
to
l-dopa
.
We
performed
brain
MRI
and
(
123
)
I
-FP-
CIT
SPECT
in
all
and
in
3
additional
patients
carrying
the
same
mutation
but
without
parkinsonism
.
Four
patients
with
parkinsonism
underwent
myocardial
(
123
)
I
-
meta
-iodobenzylguanidine
scintigraphy
.
In
all
patients
,
brain
MRI
showed
widespread
ischemic
lesions
in
the
periventricular
white
matter
,
the
internal
and
external
capsules
,
the
basal
ganglia
,
and
thalami
.
(
123
)
I
-FP-
CIT
SPECT
showed
symmetrical
or
asymmetrical
reduction
of
tracer
uptake
in
the
putamen
,
with
inconstant
caudate
involvement
.
Myocardial
(
123
)
I
-
meta
-iodobenzylguanidine
scintigraphy
resulted
normal
.
Nigrostriatal
denervation
was
also
demonstrated
in
2
patients
without
parkinsonism
.
In
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
,
parkinsonism
may
be
a
not
rare
,
late
onset
manifestation
.
The
clinical
picture
,
the
lack
of
response
to
dopaminergic
treatment
,
and
MRI
findings
suggest
a
vascular
parkinsonism
,
which
may
be
preceded
by
a
protracted
presymptomatic
phase
.
Diseases
Validation
Diseases presenting
"widespread ischemic lesions in the periventricular"
symptom
cadasil
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