Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy].
[]
To
investigate
genetics
and
clinical
characteristics
of
dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
in
Chinese
kindreds
.
Fragment
analysis
with
laser-induced
fluorescence
in
capillary
electrophoresis
was
performed
for
the
cytosine-adenine-guanine
(
CAG
)
repeats
of
DRPLA
gene
in
708
probands
of
autosomal
dominant
ataxia
pedigrees
and
119
sporadic
ataxia
cases
.
Expanded
CAG
repeats
of
DRPLA
gene
were
detected
in
probands
of
three
ataxia
pedigrees
,
with
the
numbers
of
repeats
being
16
/
58
,
16
/
58
and
14
/
54
,
respectively
.
In
addition
to
ataxia
,
patients
with
adult-onset
disease
also
exhibited
spasm
and
neck
torsion
.
Only
three
cases
of
DRPLA
have
been
identified
among
827
cases
,
which
suggested
that
DRPLA
is
a
relatively
rare
subtype
of
SCA
in
Chinese
population
.
Clinical
variation
among
the
patients
suggested
DRPLA
has
a
wide
spectrum
of
phenotype
.
