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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Phenotype; Genotype
Sprache englisch
Veröffentlichungsjahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 2376-7839
e-ISSN 2376-7839
Zeitschrift Neurology Genetics
Quellenangaben Band: 5, Heft: 4, Seiten: , Artikelnummer: e346 Supplement: ,
Verlag American Academy of Neurology
Verlagsort Minneapolis, Minn.
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Institute of Human Genetics (IHG)
POF Topic(s) 30205 - Bioengineering and Digital Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
G-500700-001
DOI 10.1212/NXG.0000000000000346
WOS ID WOS:000484334100009
Scopus ID 85073770784
Erfassungsdatum 2019-09-24
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