Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Mechanisms of disease: DNA repair defects and neurological disease.
[triple a syndrome]
In
this
Review
,
familial
and
sporadic
neurological
disorders
reported
to
have
an
etiological
link
with
DNA
repair
defects
are
discussed
,
with
special
emphasis
placed
on
the
molecular
link
between
the
disease
phenotype
and
the
precise
DNA
repair
defect
.
Of
the
15
neurological
disorders
listed
,
some
of
which
have
symptoms
of
progeria
,
six
--spinocerebellar
ataxia
with
axonal
neuropathy
-
1
,
Huntington
's
disease
,
Alzheimer
's
disease
,
Parkinson
's
disease
,
Down
syndrome
and
amyotrophic
lateral
sclerosis
--seem
to
result
from
increased
oxidative
stress
,
and
the
inability
of
the
base
excision
repair
pathway
to
handle
the
damage
to
DNA
that
this
induces
.
Five
of
the
conditions
(
xeroderma
pigmentosum
,
Cockayne
's
syndrome
,
trichothiodystrophy
,
Down
syndrome
,
and
triple-
A
syndrome
)
display
a
defect
in
the
nucleotide
excision
repair
pathway
,
four
(
Huntington
's
disease
,
various
spinocerebellar
ataxias
,
Friedreich
's
ataxia
and
myotonic
dystrophy
types
1
and
2
)
exhibit
an
unusual
expansion
of
repeat
sequences
in
DNA
,
and
four
(
ataxia-
telangiectasia
,
ataxia-
telangiectasia
-like
disorder
,
Nijmegen
breakage
syndrome
and
Alzheimer
's
disease
)
exhibit
defects
in
genes
involved
in
repairing
double
-strand
breaks
.
The
current
overall
picture
indicates
that
oxidative
stress
is
a
major
causative
factor
in
genomic
instability
in
the
brain
,
and
that
the
nature
of
the
resulting
neurological
phenotype
depends
on
the
pathway
through
which
the
instability
is
normally
repaired
.
Diseases
Validation
Diseases presenting
"amyotrophic lateral sclerosis--seem"
symptom
triple a syndrome
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