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Related Experiment Videos

Ataxia-telangiectasia, an evolving phenotype.

Helen H Chun1, Richard A Gatti

  • 1Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1732, USA.

DNA Repair
|July 29, 2004
PubMed
Summary

Ataxia-telangiectasia (A-T) is a rare neurodegenerative disorder affecting children, characterized by ataxia, immunodeficiency, and cancer susceptibility. Molecular testing aids in distinguishing A-T from similar genetic ataxias.

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Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Immunology

Background:

  • Ataxia-telangiectasia (A-T) is a progressive neurodegenerative disorder affecting early childhood, with a U.S. incidence of approximately 1 in 40,000 births.
  • It presents with cerebellar ataxia, dysarthric speech, oculomotor apraxia, immunodeficiency, cancer susceptibility, and ionizing radiation sensitivity.
  • A-T affects all races and is more prevalent in ethnic groups with high consanguinity.

Purpose of the Study:

  • To outline the key clinical and laboratory features of Ataxia-telangiectasia (A-T).
  • To highlight the diagnostic criteria and molecular underpinnings of A-T.
  • To differentiate A-T from other autosomal recessive cerebellar ataxias (ARCAs) and A-T variants using molecular testing.

Main Methods:

Related Experiment Videos

  • Review of clinical and laboratory findings associated with Ataxia-telangiectasia (A-T).
  • Analysis of genetic mutations in the ATM gene and their correlation with A-T phenotype.
  • Comparison of A-T diagnostic markers with those of other neurodegenerative disorders.

    • Main Results:

    • Characteristic laboratory findings include elevated alphafetoprotein (AFP), cerebellar atrophy, chromosomal translocations, ATM protein dysfunction, radiosensitivity, and ATM gene mutations.
    • ATM gene mutations are typically truncating or splicing, found across the gene, with recurring mutations linked to founder effects.
    • Molecular testing enables differentiation of A-T from ARCAs like Friedreich ataxia and AT-like disease, and oculomotor apraxias, as well as A-T variants like Nijmegen breakage syndrome.

    Conclusions:

    • Ataxia-telangiectasia (A-T) is a complex genetic disorder with distinct clinical and molecular features.
    • Molecular diagnostics are crucial for accurate A-T diagnosis and differentiation from other ataxias.
    • The classification of "A-T variants" is evolving with advancements in genetic understanding.