Ataxia-Telangiectasia

Excerpt

Ataxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this syndrome manifests a combination of neurological and systemic symptoms due to the mutation of the ataxia-telangiectasia mutated (ATM) gene. Clinical hallmarks of A-T include cerebellar ataxia and dilated capillaries in the oculocutaneous region (telangiectasias). Ataxia often presents in early childhood and is heralded by truncal instability as an affected child begins to sit and walk. A plethora of associated neurological and systemic signs and symptoms characterize A-T: neurologically, dysarthria, oculomotor apraxia, extrapyramidal symptoms, axonal neuropathy, and cognitive impairment are common; more broadly, individuals with A-T can experience immunological and endocrine abnormalities, and their risk of neoplastic disease is elevated. Serum levels of alpha-fetoprotein (AFP) are elevated.