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Dentatorubral-pallidoluysian atrophy (DRPLA).
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Dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
is
a
hereditary
spinocerebellar
degeneration
.
Despite
the
establishment
of
this
disease
in
1982
,
it
has
been
pointed
out
that
DRPLA
has
an
unexplained
aspect
concerning
its
clinicopathological
features
;
that
is
,
the
discrepancy
between
the
variety
of
clinical
manifestations
and
the
uniformity
of
the
brain
lesions
.
The
discovery
of
a
causative
gene
mutation
(
abnormal
expansion
of
the
CAG
repeat
in
DRPLA
gene
)
triggered
the
development
of
novel
neuropathology
in
DRPLA
,
which
has
suggested
that
polyglutamine-related
pathogenesis
involves
a
wide
range
of
central
nervous
system
regions
far
beyond
the
systems
previously
reported
to
be
affected
.
It
is
now
likely
that
DRPLA
has
an
aspect
of
neuronal
storage
disorder
and
has
multiple
system
degeneration
,
the
lesion
distribution
of
which
varies
depending
on
the
CAG
repeat
sizes
in
the
causative
gene
.
