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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
"late onset"
symptom
adrenomyeloneuropathy
cadasil
canavan disease
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
triple a syndrome
zellweger syndrome
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