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Ataxia telangiectatic (Louis-Bar syndrome)
Last reviewed: 23.04.2024
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Ataxia telangiectatic (syn: Louis-Bar syndrome) is a rare systemic disease characterized by cerebellar ataxia, which is the earliest symptom, telangiectasias that appear later, usually at 4 years of age, chromosomal instability, immunodeficiency, leading to frequent infections, mainly upper respiratory pathways and a tendency to develop tumors, mostly lymphoreticular.
[Causes and pathogenesis
Inherited by an autosomal recessive type, the gene locus is Ilq22-q23. There is a view that the disease is a hereditary impairment of the ability to respond to damage caused by ionizing radiation. It is also possible for a defect in DNA repair for some genetic variants. It is suggested that thymic hypoplasia and changes in the nervous system may be caused by vascular anomalies caused by the mesodermal defect or autoimmune reactions to an antigen common to thymocytes and nerve cells. The connection of T-cell tumors in patients with telangiectatic ataxia with a chromosome rupture, predominantly 14qll, is indicated.
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