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Machado-Joseph disease and other rare spinocerebellar ataxias.
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The
spinocerebellar
ataxias
(
SCAs
)
are
a
group
of
neurodegenerative
diseases
characterised
by
progressive
lack
of
motor
coordination
leading
to
major
disability
.
SCAs
show
high
clinical
,
genetic
,
molecular
and
epidemiological
variability
.
In
the
last
one
decade
,
the
intensive
scientific
research
devoted
to
the
SCAs
is
resulting
in
clear
advances
and
a
better
understanding
on
the
genetic
and
nongenetic
factors
contributing
to
their
pathogenesis
which
are
facilitating
the
diagnosis
,
prognosis
and
development
of
new
therapies
.
The
scope
of
this
chapter
is
to
provide
an
updated
information
on
Machado-
Joseph
disease
(
MJD
)
,
the
most
frequent
SCA
subtype
worldwide
and
other
rare
spinocerebellar
ataxias
including
dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
,
the
X-
linked
fragile
X
tremor
and
ataxia
syndrome
(
FXTAS
)
and
the
nonprogressive
episodic
forms
of
inherited
ataxias
(
EAs
)
.
Furthermore
,
the
different
therapeutic
strategies
that
are
currently
being
investigated
to
treat
the
ataxia
and
non-
ataxia
symptoms
in
SCAs
are
also
described
.