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Krenn, M.* ; Milenkovic, I.* ; Eckstein, G. ; Zimprich, F.* ; Meitinger, T. ; Foki, T.* ; Wagner, M.

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Neurol. Genet. 5:e346 (2019)

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Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in ATM, encoding a serine-threonine protein kinase that is crucially involved in DNA repair mechanisms. Clinical features include cerebellar degeneration, telangiectasia, immunodeficiency, and an increased risk of malignancies.(1) The classic form of A-T is characterized by infantile, rapidly progressing neurodegeneration and can be differentiated from variant A-T with a comparably milder disease course.(2,3) However, only a tiny fraction of patients first present with symptoms in adulthood.(4) The broad phenotypic spectrum of A-T now becomes gradually disentangled owing to the increased availability of comprehensive genetic testing.(5)

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