Rare Diseases Symptoms Automatic Extraction
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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
.