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
"telangiectasia"
symptom
coats disease
cowden syndrome
cutaneous mastocytosis
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
kindler syndrome
malignant atrophic papulosis
omenn syndrome
pendred syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
werner syndrome
This symptom has already been validated