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White matter lesions and cognitive deterioration in presymptomatic carriers of the amyloid precursor protein gene codon 693 mutation.
[hereditary cerebral hemorrhage with amyloidosis]
To
determine
early
manifestations
of
hereditary
cerebral
hemorrhage
with
amyloidosis
(
Dutch
)
.
Survey
.
Neurologic
outpatient
department
of
the
University
Hospital
Leiden
in
the
Netherlands
.
T
en
presymptomatic
carriers
of
the
amyloid
precursor
protein
gene
codon
693
mutation
.
E
xtensive
neuropsychological
examination
and
cerebral
magnetic
resonance
imaging
.
Six
subjects
older
than
40
years
showed
white
matter
hyperintensities
on
magnetic
resonance
imaging
.
Three
of
these
six
individuals
had
signs
of
cognitive
deterioration
.
The
four
younger
subjects
(
age
,
<
31
years
)
showed
no
abnormalities
on
magnetic
resonance
imaging
or
on
neuropsychological
examination
.
We
suggest
that
white
matter
hyperintensities
in
hereditary
cerebral
hemorrhage
with
amyloidosis
(
Dutch
)
are
probably
caused
by
chronic
ischemia
due
to
stenosis
of
the
meningocortical
arterioles
,
which
becomes
visible
on
magnetic
resonance
imaging
scans
in
individuals
who
are
between
the
ages
of
30
and
40
years
.
The
finding
of
cognitive
deterioration
in
three
of
10
presymptomatic
mutation
carriers
supports
the
finding
that
in
hereditary
cerebral
hemorrhage
with
amyloidosis
(
Dutch
)
,
deterioration
can
occur
without
stroke
.
A
direct
relation
between
cognitive
deterioration
and
white
matter
hyperintensities
is
unlikely
,
because
only
half
of
the
individuals
with
white
matter
hyperintensities
showed
signs
of
deterioration
.
Diseases
Validation
Diseases presenting
"white matter hyperintensities"
symptom
22q11.2 deletion syndrome
cadasil
hereditary cerebral hemorrhage with amyloidosis
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