|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition.
|
30888062 |
2019 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Testing for vitamin E (for ataxia with isolated vitamin E deficiency) and alpha fetoprotein (for Ataxia Telangiectasia or AT) are important, as is empiric treatment with coenzyme Q10 for those genetic abnormalities that can lead to coenzyme Q deficiency.
|
29735117 |
2018 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis.
|
29127364 |
2017 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased.
|
25957637 |
2015 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both mutations detected in ATM have been shown to be pathogenic, and α-fetoprotein, a marker of ataxia telangiectasia, was increased in all affected individuals.
|
23946315 |
2013 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated α-fetoprotein levels.
|
22017321 |
2012 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Patients with classic and variant A-T had elevated serum alpha-fetoprotein levels and chromosome 7/14 rearrangements.
|
19535770 |
2009 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that serum AFP is not only elevated, but also is continuously increasing with age in patients with classical A-T disease.
|
17540590 |
2007 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Nineteen cases presented with non-conclusive results, mostly due to poor mitogen response; however, a combination of cell-cycle data with serum AFP concentrations led to the exclusion of AT in all but two of the uncertain cases.
|
16411093 |
2006 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein level, chromosomal instability, predisposition to cancer, and radiation sensitivity.
|
16380133 |
2006 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although they all had raised serum AFP levels, their clinical, immunological, biochemical, cytogenetic and molecular genetic studies failed to support a diagnosis of Ataxia Telangiectasia.
|
15258781 |
2004 |
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Blood work-up showed low IgG2 and elevated alpha-fetoprotein (AFP), consistent with the AT phenotype.
|
10464655 |
1999 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein levels, chromosomal instability, predisposition to cancer, and radiation sensitivity.
|
9521587 |
1998 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia.
|
1551665 |
1992 |
|
Ataxia Telangiectasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients.
|
2722185 |
1989 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In spite of many resemblances, this syndrome differs from classical or complete ataxia telangiectasia in that oculocutaneous telangiectases were lacking, the serum IgA and alpha-fetoprotein levels in this family were normal, there was no gonadal dysgenesis, and the cytogenetic findings were atypical.
|
6597863 |
1985 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A fetus 'at-risk' for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of 'at-risk' amniotic fluid; and cytogenic evaluation of fetal amniocytes.
|
2579376 |
1985 |
|
Ataxia Telangiectasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A case of a young white female with AT who developed hepatocellular carcinoma along with significantly elevated levels of alpha fetoprotein is presented.
|
92892 |
1980 |