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(2006) David and Mary Veldink discuss their journey through A-T.

Dr Richard Gatti – David Geffen School of Medicine UCLA, USA

Dr Richard Gatti meets with ecancertv to discuss Ataxia telangiectasia (AT), a rare, and some times lethal, disorder in children where one out of three develops malignancy by the age of ten.

Dr Gatti notes that children with AT have a very strong cancer predisposition because they are missing the ATM protein which causes cell death by apoptosis; however, it is still unclear has to how this results in the development of cancer cells. Dr Gatti is currently working on the development of a group of drugs that treat cells with the mutation and induce them to produce the ATM protein. These drugs also have the potential to treat other genetic diseases.

Ataxia Telangiectasia - Immunology USMLE Step 1:

Defects in ATM gene  failure to detect DNA damage  leading to halt progression of cell cycle  mutations accumulate
autosomal recessive

Triad:
cerebellar defects (Ataxia),
spider Angiomas (telangiectasia),
IgA deficiency  extremely increased sensitivity to radiation (limit x-ray exposure)

FINDINGS:
Increased AFP
Decreased IgA, IgG, and IgE
Lymphopenia,
Cerebellar atrophy
Increased risk of lymphoma and leukemia

The story of Elliot and his life with ataxia telangiectasia.