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: 14737
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Ataxia Telangiectasia: 4251
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Ataxia Telangiectasia: 4251
- Neurocutaneous Syndromes: 269
  - Ataxia Telangiectasia: 4251
Cardiovascular Diseases: 94258
- Vascular Diseases: 15340
  - Telangiectasis: 2073
    - Ataxia Telangiectasia: 4251
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Ataxia Telangiectasia: 4251
  - Primary Immunodeficiency Diseases: 1211
    - Ataxia Telangiectasia: 4251
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - DNA Repair-Deficiency Disorders: 544
    - Ataxia Telangiectasia: 4251
Immune System Diseases: 4430
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1211
    - Ataxia Telangiectasia: 4251

Fusao Makishima Selected Research

Fusao Makishima Research Topics

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