Ataxia Telangiectasia (AT)

Introduction

• Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene.
• Core Manifestations:
  • Cerebellar ataxia in early toddler years.
  • Oculocutaneous telangiectasias in school-aged children.

  ATM Gene and Its Function

  • Neurologic, immunologic, oncologic, respiratory, and endocrinologic involvement.

  DNA Damage and ATM Activation

  • ATM Gene: Encodes serine/threonine kinase involved in:
    1. DNA Repair (double-strand breaks).
    2. Telomere Maintenance.
    3. Cell-cycle Control.
    4. Redox Homeostasis.
    5. Mitophagy/Pexophagy.
    6. Apoptosis.
    7. Chromatin Remodeling.

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