Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations

@article{Drk2004SlowPO,
  title={Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations},
  author={Thilo D{\"o}rk and Regina Bendix-Waltes and Rolf Dieter Wegner and Markus Stumm},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={126A}
}
Ataxia‐telangiectasia (A‐T) is caused by mutations of the ATM gene, the product of which is involved in the regulation of cellular responses to radiation damage. Ataxia usually starts in early childhood but a delayed age at onset and slower rate of neurological deterioration has been found for some patients with variant A‐T. Only few patients have been documented to survive into the 4th decade. We report on a patient with an attenuated form of A‐T who was diagnosed as having A‐T by the age of… Expand
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TLDR
This analysis shows that the severity of the neurological component of A‐T is determined not only by ATM mutations but also by other influences yet to be found. Expand
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
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TLDR
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TLDR
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TLDR
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Late-onset ataxia telangiectasia.
TLDR
The case of a woman first diagnosed with AT at the unusually late age of 60 is reported, with a predominance of extrapyramidal features, later age at ataxia onset, slower progression, and an extended lifespan. Expand
Functional classification of ATM variants in ataxia‐telangiectasia patients
TLDR
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Rats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage
TLDR
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TLDR
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A taxia-telangiectasia (A-T) is a multisystem autosomal recessive disorder, with an estimated frequency of 1/40 000-1/100 000 live births.1 The ataxia-telangiectasia mutated gene ( ATM ), located onExpand
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TLDR
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TLDR
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TLDR
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TLDR
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