Ataxia Telangiectasia

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; Telangiectasia, Cerebello-Oculocutaneous; Syndrome, Ataxia Telangiectasia; Louis-Bar Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Cerebellar Ataxia: 1529
        Spinocerebellar Ataxias: 2083
        Ataxia Telangiectasia: 4175
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebellar Diseases: 631
      - Cerebellar Ataxia: 1529
        Spinocerebellar Ataxias: 2083
        Ataxia Telangiectasia: 4175
- Neurocutaneous Syndromes: 262
  - Ataxia Telangiectasia: 4175
Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Telangiectasis: 2030
    - Ataxia Telangiectasia: 4175
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Ataxia Telangiectasia: 4175
  - Primary Immunodeficiency Diseases: 1189
    - Ataxia Telangiectasia: 4175
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Ataxia Telangiectasia: 4175
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Ataxia Telangiectasia: 4175

Jennifer L Shepard Selected Research

Jennifer L Shepard Research Topics

Disease

Drug/Important Bio-Agent (IBA)