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Ataxia Telangiectasia (Louis Bar Syndrome) Summary

Description: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

Also Known As: Louis Bar Syndrome; Syndrome, Louis-Bar; Ataxia Telangiectasia Syndrome; Ataxia-Telangiectasia; Syndrome, Ataxia Telangiectasia Show All >>

Networked: 2496 relevant articles (23 outcomes, 122 trials/studies) for this Disease

Key Drugs and Agents for Ataxia Telangiectasia

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Phosphotransferases (Kinase) : 5 outcomes 41 studies in 786 results : IBA
  2. DNA (Deoxyribonucleic Acid) : 3 outcomes 22 studies in 674 results : IBA
  3. Proteins (Proteins, Gene) : 3 outcomes 5 studies in 140 results : IBA
  4. Protein Kinases (Protein Kinase) : 2 outcomes 8 studies in 183 results : IBA
  5. ataxia telangiectasia mutated protein : 2 outcomes 6 studies in 152 results : IBA
  6. Betamethasone (Celestone) : 2 outcomes 2 studies in 4 results : FDA 4
  7. DNA-Activated Protein Kinase : 2 outcomes 1 study in 128 results : IBA
  8. Histones (Histone) : 1 outcome 5 studies in 94 results : IBA
  9. Caffeine (No Doz) : 1 outcome 3 studies in 61 results : FDA 88 Generic
  10. Reactive Oxygen Species (Oxygen Radicals) : 1 outcome 3 studies in 28 results : IBA
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Diseases Related to Ataxia Telangiectasia

  1. Neoplasms (Cancer)
  2. Atrophy
  3. Ataxia (Dyssynergia)
  4. Hypercholesterolemia
  5. Burkitt Lymphoma (Burkitt's Lymphoma)
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Key Therapies for Ataxia Telangiectasia

Efficacy Chart >>
  1. Radiotherapy : 1 outcome 1 study in 28 results
  2. Drug Therapy (Chemotherapy) : 2 studies in 19 results
  3. Aftercare (After-Treatment) : 1 study in 15 results
  4. Transplantation (Transplant Recipients) : 1 study in 8 results
  5. Brachytherapy : 1 study in 2 results
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