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Cognitive and psychological functioning in fabry disease.
[fabry disease]
Fabry
disease
is
an
X-
linked
lysosomal
storage
disorder
which
can
result
in
renal
,
cardiac
,
and
cerebrovascular
disease
.
Patients
are
at
increased
risk
of
stroke
and
neuroimaging
studies
note
cerebrovascular
pathology
.
This
study
provides
a
cognitive
profile
of
a
cohort
of
individuals
with
Fabry
disease
and
investigates
the
impact
of
pain
,
age
,
renal
,
cardiac
,
and
cerebrovascular
functioning
on
cognition
and
psychological
functioning
.
Seventeen
Fabry
patients
(
12
males
)
with
ages
ranging
25
to
60
years
(
M
=
46
.
6
+
11
.
8
)
,
and
15
age-matched
healthy
controls
(
M
=
46
.
2
+
12
.
7
)
were
administered
a
comprehensive
neuropsychological
battery
.
Fabry
males
demonstrated
slower
speed
of
information
processing
,
reduced
performance
on
measures
of
executive
functions
(
verbal
generation
,
reasoning
,
problem
solving
,
perseveration
)
,
were
more
likely
to
show
clinically
significant
reductions
,
and
were
more
likely
to
report
symptoms
of
anxiety
and
depression
.
Conversely
,
Fabry
females
performed
at
a
similar
level
to
controls
.
Correlational
analyses
indicated
a
link
between
cognitive
and
clinical
measures
of
disease
severity
.
Diseases
Validation
Diseases presenting
"cardiac"
symptom
fabry disease
holt-oram syndrome
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