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Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy.
[cadasil]
Failure
of
elimination
of
proteins
from
the
brain
is
a
major
feature
in
many
neurodegenerative
diseases
.
Insoluble
proteins
accumulate
in
brain
parenchyma
and
in
walls
of
cerebral
capillaries
and
arteries
.
Cerebral
amyloid
angiopathy
(
CAA
)
is
a
descriptive
term
for
amyloid
in
vessel
walls
.
Here
,
we
adopt
the
term
protein
elimination
failure
angiopathy
(
PEFA
)
to
focus
on
mechanisms
involved
in
the
pathogenesis
of
a
spectrum
of
disorders
that
exhibit
both
unique
and
common
features
of
protein
accumulation
in
blood
vessel
walls
.
We
review
(
a
)
normal
pathways
and
mechanisms
by
which
proteins
and
other
soluble
metabolites
are
eliminated
from
the
brain
along
100
-
to
150
-
nm-
thick
basement
membranes
in
walls
of
cerebral
capillaries
and
arteries
that
serve
as
routes
for
lymphatic
drainage
of
the
brain
;
(
b
)
a
spectrum
of
proteins
involved
in
PEFA
;
and
(
c
)
changes
that
occur
in
artery
walls
and
contribute
to
failure
of
protein
elimination
.
We
use
accumulation
of
amyloid
beta
(
Aβ
)
,
prion
protein
and
granular
osmiophilic
material
(
GOM
)
in
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
as
examples
of
different
factors
involved
in
the
aetiology
and
pathogenesis
of
PEFA
.
Finally
,
we
discuss
how
knowledge
of
factors
involved
in
PEFA
may
help
to
focus
on
new
therapies
for
neurodegenerative
diseases
.
When
Aβ
(
following
immunotherapy
)
and
prion
protein
are
released
from
brain
parenchyma
they
deposit
in
walls
of
cerebral
capillaries
and
arteries
;
GOM
in
CADASIL
accumulates
primarily
in
artery
walls
.
Therefore
,
the
focus
of
therapy
for
protein
clearance
in
neurodegenerative
disease
should
perhaps
be
on
facilitating
perivascular
elimination
of
proteins
and
reducing
PEFA
.
Diseases
Validation
Diseases presenting
"brain parenchyma"
symptom
cadasil
hereditary cerebral hemorrhage with amyloidosis
hydrocephalus with stenosis of the aqueduct of sylvius
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