Human Genetics

, Volume 99, Issue 2, pp 282–284

Transmission distortion of the mutant alleles in spinocerebellar ataxia

  • Olaf Riess
  • Jörg T. Epplen
  • Georgios Amoiridis
  • Horst Przuntek
  • L. Schöls
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DOI: 10.1007/s004390050355

Cite this article as:
Riess, O., Epplen, J., Amoiridis, G. et al. Hum Genet (1997) 99: 282. doi:10.1007/s004390050355

Abstract

Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal dominant neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel genes. In our collective of SCA1 and SCA3 families, we observed distortion of the Mendelian 1:1 segregation of the disease. The mutated alleles were preferentially transmitted by female carriers in SCA3, whereas a gender effect on clinical features such as age of onset was not obvious. The mechanism underlying segregation distortion remains to be established.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Olaf Riess
    • 1
  • Jörg T. Epplen
    • 1
  • Georgios Amoiridis
    • 2
  • Horst Przuntek
    • 2
  • L. Schöls
    • 2
  1. 1.Human Molecular Genetics, St. Josef Hospital, Ruhr University, Bochum, GermanyDE
  2. 2.Department of Neurology, St. Josef Hospital, Ruhr University, Gudrunstrasse 56, D-44791 Bochum, Germany Tel.: +49-234-509-2411; Fax: +49-234-509-2414DE

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