"DAVIDE DE MARINI"
Research - Prevention - Therapy
Ataxia-Teleangiectasia or Louis-Bar Syndrome (by the scientist who first descibed it in 1947) is a recessive autosomic disease (that is transmitted by the parents healthy carriers of this disease). It is characterized by cerebellum ataxy (progressive difficulty in deambulation and other movements), teleangiectasia (dilatation of small arteries) and immuno deficiency (reduction of immune defences that makes people very sensitive to infections, especially those pulmonary). It is also characterized by increasing sensibility to radiations (that's the reason why infected subjects must be subjected to the smallest possible number of radiologic examinations) and by a high probability of developing leukaemias or other tumours. Death often occurs unexpectedly around the second decade of the life caused by infections or tumours. AT patients life is characterized by difficulty in performing movements. Because of the frequent and serious infections, intense therapies, repeated admissions to hospital and the continuative human gamma-globuline administration (to replace lacking antibodies) are indispensable.
This disease is hereditary and strikes a child every 40,000 generation born. It is diagnosed around the third-fourth year of life. It is calculated that the frequency of healthy carriers varies from one to three people every hundred (that is one-three people out of one hundred can give birth to a sick child in case of union with another healthy carrier). Healthy carriers have a higher risk of developing cancer: around three times higher (six times for breast cancer) than the rest of population.
State of the scientific research
In the last few years the researchers efforts have attained important results that don't allow to cure of this disease yet. The most recent and significative discovery has been the localization of Ataxia-Telangiectasia gene in chromosome 11, in 1995 AT gene has been isolated. This allows in some so-called informative families to effect prenatal diagnosis of the disease and to identify the healthy carriers. In Italy several research groups are studying the AT. They have contributed to the localization of the gene in chromosome 11, to the comprehension of the mechanisms that provoke the deficiency of the immune system and the predisposition to the leukaemias and to the identification of the mutable aspects of the disease.
E-Mail: atddm@mobilia.it
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