Rare Diseases Symptoms Automatic Extraction
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CADASIL presenting with a behavioural variant frontotemporal dementia phenotype.
[cadasil]
The
behavioural
variant
of
frontotemporal
dementia
(
bvFTD
)
is
characterised
by
personality
change
with
a
decline
in
cognition
.
We
describe
two
patients
with
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukencephalopathy
(
CADASIL
)
who
presented
with
behavioural
phenotypes
similar
to
bvFTD
.
The
first
patient
presented
with
progressive
personality
and
behavioural
change
,
had
florid
white
matter
hyperintensity
,
and
had
a
novel
missense
mutation
C
3
66
W
in
exon
7
of
the
Notch
3
gene
.
The
second
patient
presented
with
progressive
memory
impairment
and
marked
personality
changes
after
a
transient
ischaemic
attack
.
In
this
second
patient
,
the
radiological
features
were
subtle
and
only
the
family
history
of
stroke
prompted
testing
for
CADASIL
using
Notch
3
genotyping
.
We
present
these
patients
to
demonstrate
that
CADASIL
may
mimic
bvFTD
,
with
little
clinical
or
radiological
evidence
to
distinguish
the
two
.
CADASIL
may
be
an
under-recognised
diagnosis
in
apparent
bvFTD
.
Screening
Notch
3
in
a
substantial
and
unselected
cohort
of
frontotemporal
dementia
patients
might
be
appropriate
to
investigate
this
possibility
.
Diseases
Validation
Diseases presenting
"white matter hyperintensity"
symptom
cadasil
gm1 gangliosidosis
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