Ataxia-Telangiectasia (ATM)

Ataxia-Telangiectasia (ATM) is a progressive multisystem disorder with childhood-onset cerebellar ataxia, oculomotor apraxia, telangiectasia, immunodeficiency, recurrent sinopulmonary infection, chronic lung disease, insulin resistance, marked radiosensitivity and high leukemia and lymphoma risk.
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Genetics

Autosomal recessive disease caused by biallelic pathogenic variants in ATM. Variants that retain residual ATM kinase activity can produce attenuated disease with later onset.

Molecular Mechanism

ATM coordinates the response to DNA double-strand breaks, cell-cycle checkpoints, V(D)J recombination, oxidative stress and aspects of mitochondrial homeostasis. Its loss causes genomic instability and selective neurodegeneration, especially of cerebellar Purkinje and granule neurons.

Therapy

Care is supportive and includes rehabilitation, immunoglobulin replacement when indicated, aggressive respiratory management, metabolic and cancer surveillance, and radiation-sparing diagnostics and oncology regimens. No disease-modifying therapy is approved; corticosteroid formulations and N-acetyl-L-leucine remain investigational.

CCP Activity

CCP is investigating possibilities of therapeutic intervention and searching for proper disease modelling.

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