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Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
Published on: December 27, 2024
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Ataxia telangiectasia: a review
Cynthia Rothblum-Oviatt1, Jennifer Wright2, Maureen A Lefton-Greif3
1A-T Children's Project, Coconut Creek, Florida, USA. cynthia@atcp.org.
Orphanet Journal of Rare Diseases
|November 26, 2016
Summary
Ataxia telangiectasia (A-T) is a rare genetic disorder affecting neurological, immunological, and cancer risks. Diagnosis involves clinical signs, lab tests, and ATM gene mutation identification for genetic counseling and supportive care.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Immunology
- Oncology
Background:
- Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility, and radiation sensitivity.
- It is often described as a genome instability or DNA damage response syndrome, with a global prevalence estimated between 1 in 40,000 and 1 in 100,000 live births.
Purpose of the Study:
- To provide a comprehensive overview of Ataxia telangiectasia (A-T).
- To detail the genetic basis, clinical manifestations, diagnostic criteria, and management strategies for A-T.
Main Methods:
- Diagnosis is typically suspected based on a combination of neurological features and clinical findings.
- Confirmation involves laboratory tests such as detecting ATM protein deficiency or identifying pathological mutations in the ATM gene.
- Antenatal diagnosis and genetic counseling are also discussed.
Main Results:
- A-T presents with variable severity, often manifesting in early childhood with neurological symptoms.
- Affected individuals exhibit immunological abnormalities, increased cancer predisposition (especially lymphoid cancers), and potential pulmonary, dermatological, and endocrine issues.
- The disorder is caused by mutations in the ATM gene, crucial for DNA double-strand break repair.
Conclusions:
- While neurodegeneration in A-T cannot be halted, associated symptoms like immunodeficiency and pulmonary disease can be effectively managed.
- Accurate diagnosis through clinical evaluation, laboratory testing, and genetic analysis is crucial for appropriate patient care and genetic counseling.
