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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) associated with a Novel C82R Mutation in the NOTCH3 Gene.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
a
rare
inherited
cerebrovascular
disease
associated
with
mutations
in
the
NOTCH
3
gene
on
chromosome
19
,
and
represents
the
most
common
hereditary
stroke
disorder
.
We
describe
a
pedigree
,
which
suffered
the
classical
clinical
CADASIL
pattern
of
migraine
headaches
,
recurrent
subcortical
infarcts
,
and
subcortical
dementia
,
associated
with
a
previously
undescribed
missense
mutation
(
c
.
[
244
T
>
C
]
,
p
.
[
C
82
R
]
)
in
NOTCH
3
.
This
new
mutation
extends
the
list
of
known
pathogenic
mutations
responsible
for
CADASIL
,
which
are
associated
with
an
odd
number
of
cysteine
residues
within
any
of
the
epidermal
growth
factor
-like
repeats
of
Notch
3
receptor
protein
.