Abstract
The autosomal recessive, neurodegenerative disorder ataxia-telangiectasia (A-T) is a rare disease caused by mutations in the ATM gene. The symptoms typically manifest in the first decade of life as progressive cerebellar ataxia due to degeneration of Purkinje cells, as well as conjunctival telangiectasia, recurrent sinopulmonary infections, weakened immunity (IgA and IgG2 deficiencies), and a proclivity toward lymphoid-type cancers (leukemia and lymphoma). A-T can be classified as a neurocutaneous syndrome, even though the vascular and cutaneous lesions do not represent congenital nevi. The condition is often referred to as a genome instability or DNA damage response syndrome. Variability in the phenotypic presentation occurs based on homozygous or compound heterozygous mutations in the ATM gene, located on chromosome 11q22-23. There is diminished ligase III protein that impairs the function of mitochondrial DNA. The worldwide incidence of A-T is estimated to be 1 in between 40,000 and 100,000 live births, and the prevalence varies with the degree of consanguinity. Treatments thus far to halt the progression of the disease have been discouraging.
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Panteliadis, C.P., Benjamin, R. (2022). Ataxia-Telangiectasia (Louis-Bar Syndrome). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_6
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