Journal of Neurology

, Volume 251, Issue 5, pp 591–594

Aprataxin mutations are a rare cause of early onset ataxia in Germany

  • Matthias Habeck
  • Christine Zühlke
  • Karl H. P. Bentele
  • Stephan Unkelbach
  • Wolfram Kreß
  • Katrin Bürk
  • Eberhard Schwinger
  • Yorck Hellenbroich
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-004-0374-7

Cite this article as:
Habeck, M., Zühlke, C., Bentele, K.H.P. et al. J Neurol (2004) 251: 591. doi:10.1007/s00415-004-0374-7

Abstract.

Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

Key words

APTXaprataxinataxiaocular motor apraxia

Copyright information

© Steinkopff Verlag 2004

Authors and Affiliations

  • Matthias Habeck
    • 1
  • Christine Zühlke
    • 1
  • Karl H. P. Bentele
    • 2
  • Stephan Unkelbach
    • 3
  • Wolfram Kreß
    • 4
  • Katrin Bürk
    • 5
  • Eberhard Schwinger
    • 1
  • Yorck Hellenbroich
    • 1
  1. 1.Institut für HumangenetikUniversität zu LübeckLübeckGermany
  2. 2.Klinik für Kinder- und JugendmedizinUniversität HamburgGermany
  3. 3.Praxis für Kinder- und JugendmedizinVolkachGermany
  4. 4.Institut für HumangenetikUniversität WürzburgGermany
  5. 5.Klinik für NeurologieUniversität TübingenGermany