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:
- DNA Repair (double-strand breaks).
- Telomere Maintenance.
- Cell-cycle Control.
- Redox Homeostasis.
- Mitophagy/Pexophagy.
- Apoptosis.
- Chromatin Remodeling.