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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
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated