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Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Neurol. Genet. 5:e346 (2019)
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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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Phenotype; Genotype
ISSN (print) / ISBN
2376-7839
e-ISSN
2376-7839
Journal
Neurology Genetics
Quellenangaben
Volume: 5,
Issue: 4,
Article Number: e346
Publisher
American Academy of Neurology
Publishing Place
Minneapolis, Minn.
Non-patent literature
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Reviewing status
Peer reviewed