Neuropediatrics 2008; 39(6): 347-350
DOI: 10.1055/s-0029-1214424
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein

V. Bernard 1 , S. Stricker 2 , F. Kreuz 3 , M. Minnerop 4 , 5 , G. Gillessen-Kaesbach 1 , C. Zühlke 1
  • 1Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany
  • 2Klinik für Neurologie, Charité Universitätsmedizin Berlin, Berlin, Germany
  • 3Gemeinschaftspraxis für Humangenetik, Dresden, Germany
  • 4Klinik für Neurologie, Universität Bonn, Bonn, Germany
  • 5Institut für Neurowissenschaften und Medizin, Forschungszentrum Jülich, Jülich, Germany
Further Information

Publication History

received 07.10.2008

accepted 13.02.2009

Publication Date:
30 June 2009 (online)


Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the senataxin gene (SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum α-fetoprotein levels. Sequencing the 24 coding exons and flanking intronic sequences revealed 11 novel DNA variations, including seven unknown missense mutations, a dinucleotide deletion, a four-nucleotide deletion affecting the 5′ splice site of exon 22 and two sequence variations, which are considered to be polymorphisms. By molecular testing the clinical diagnosis has been confirmed in all patients.


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V. Bernard

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Universität zu Lübeck

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