Clinical and genetic variability of ataxia-teleangiectasia (Louis-Bar syndrome)
Keywords:
ataxia-teleangiectasia, variability, tremor, dystoniaAbstract
Ataxia telangiectasia (A-T) or Louis-Bar Syndrome) is an autosomal recessive disorder, due to mutations in the ATM gene, which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress. Different forms or presentations of A-T have been described in the literature, with those more severe variably categorized as “classic”, while milder forms have been referred to as “variant”. The classic phenotype is characterized by cerebellar degeneration, extrapyramidal hyperkinesia, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. The extrapyramidal hyperkinesia are the predominant symptoms in the variant form, where ataxia and teleangiectasia can be absent. In both forms there is a higher risk for tumors, as well as elevated alpha-fetoprotein in serum.
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