, Volume 9, Issue 4, pp 295–299 | Cite as

Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2)

  • Larissa Arning
  • Ludger Schöls
  • Huriye Cin
  • Manfred Souquet
  • Jörg T. Epplen
  • Dagmar Timmann
Short Communication


Autosomal recessive cerebellar ataxia with ocular apraxia type 2 (AOA2) is a neurodegenerative disorder characterised by early onset cerebellar ataxia, sensory-motor neuropathy and frequently increased levels of α-fetoprotein. We describe a male patient with a phenotype highly suggestive of AOA2, but only one point mutation found by sequencing of the SETX gene. Further analysis revealed a large out-of-frame tandem duplication, encompassing exons 7, 8, 9 and 10. This duplication event occurred obviously by unequal homologous recombination between AluY sequences. Gross SETX deletions or duplications might be an underestimated cause of AOA2.


AOA2 Senataxin Duplication Ataxia 



The authors would like to thank Andrea Petzold for technical assistance.


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Larissa Arning
    • 1
  • Ludger Schöls
    • 2
  • Huriye Cin
    • 1
  • Manfred Souquet
    • 3
  • Jörg T. Epplen
    • 1
  • Dagmar Timmann
    • 4
  1. 1.Department of Human GeneticsRuhr UniversityBochumGermany
  2. 2.Department of Neurology, Hertie-Institute for Clinical Brain ResearchEberhard Karls University TübingenTuebingenGermany
  3. 3.GenomeLabBeckman CoulterKrefeldGermany
  4. 4.Department of NeurologyUniversity of Duisburg–EssenEssenGermany

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