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Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
[hereditary cerebral hemorrhage with amyloidosis]
Hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
,
caused
by
a
mutation
at
codon
693
of
the
amyloid
beta
precursor
protein
gene
,
is
characterized
by
amyloid
beta
deposition
resulting
in
recurrent
strokes
and
dementia
.
Recent
data
suggest
that
presenilin-
1
may
be
biologically
linked
to
cerebral
amyloid
beta
deposition
.
The
intronic
presenilin-
1
polymorphism
published
by
Wragg
and
colleagues
(
1996
)
was
analyzed
in
65
carriers
of
the
hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
,
mutation
.
We
found
that
the
presenilin-
1
genotype
was
not
correlated
with
age
at
first
stroke
,
number
of
recurrences
,
dementia
,
and
age
at
death
or
with
white
matter
hyperintensities
and
focal
lesions
on
magnetic
resonance
images
.
From
our
data
we
conclude
that
amyloid
beta
deposition
in
this
disease
is
most
likely
not
influenced
by
presenilin-
1
.