ataxia telangiectasia; Louis-Bar syndrome

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Etiology

mutation in ATM gene

Epidemiology

most common of the degenerative ataxias

Pathology

Genetics

Clinical manifestations

Laboratory

* seen in virtually all patients with AT (consistent with abnormalities in embryogenesis)

More general terms

Additional terms

References

  1. Jump up to: 1.0 1.1 Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1564, 1999, 2057
  2. NINDS Ataxia Telangiectasia Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Ataxia-Telangiectasia-Information-Page

Patient information

ataxia telangiectasia (Louis-Bar syndrome) patient information

Database