Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Changing clinical patterns and increasing prevalence in CADASIL.
[cadasil]
CADASIL
is
a
monogenic
small
vessel
vasculopathy
causing
recurrent
stroke
.
Early
descriptions
suggested
dementia
and
disability
were
common
from
the
5
th
decade
but
there
is
evidence
of
marked
phenotypic
variability
.
We
investigated
the
prevalence
and
clinical
features
of
CADASIL
in
the
west
of
Scotland
.
We
undertook
a
retrospective
review
of
clinical
records
of
patients
with
confirmed
CADASIL
identified
through
a
specialist
clinic
.
Patients
were
divided
to
examine
the
effect
of
date
of
diagnosis
on
clinical
outcomes
and
the
characteristics
at
different
ages
.
The
location
of
pedigree
members
was
used
to
estimate
prevalence
.
Twenty
-
one
different
CADASIL
-causing
NOTCH
3
mutations
were
identified
in
49
pedigrees
(
61
%
in
exon
4
)
.
Disease
prevalence
in
Glasgow
was
4
.
6
/
100
,
000
adults
.
Mutation
prevalence
was
estimated
at
10
.
7
/
100
,
000
population
.
Median
age
at
first
stroke
in
women
(
57
years
)
was
higher
than
previous
estimates
,
and
stroke
age
in
men
was
higher
in
patients
diagnosed
more
recently
(
pre
2006
46
years
,
post
2006
56
years
,
P
=
0
.
034
)
.
In
patients
over
58
years
of
age
,
13
/
34
(
38
%
)
were
living
independently
and
17
/
28
(
61
%
)
were
mobile
without
aids
when
last
seen
.
CADASIL
prevalence
is
at
least
4
.
6
per
100
,
000
adults
.
Median
age
of
first
stroke
may
be
older
than
previously
thought
.
Clinicians
should
consider
CADASIL
in
the
differential
diagnosis
even
in
older
patients
with
stroke
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated