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Transmission distortion of the mutant alleles in spinocerebellar ataxia

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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.

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Authors and Affiliations

  1. Human Molecular Genetics, St. Josef Hospital, Ruhr University, Bochum, Germany, , , , , , DE

    Olaf Riess & Jörg T. Epplen

  2. Department of Neurology, St. Josef Hospital, Ruhr University, Gudrunstrasse 56, D-44791 Bochum, Germany Tel.: +49-234-509-2411; Fax: +49-234-509-2414, , , , , , DE

    Georgios Amoiridis, Horst Przuntek & L. Schöls

Authors
  1. Olaf Riess
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  2. Jörg T. Epplen
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  3. Georgios Amoiridis
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  4. Horst Przuntek
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  5. L. Schöls
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Received: 9 September 1996 / Revised: 7 October 1996

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Riess, O., Epplen, J., Amoiridis, G. et al. Transmission distortion of the mutant alleles in spinocerebellar ataxia. Hum Genet 99, 282–284 (1997). https://doi.org/10.1007/s004390050355

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  • DOI: https://doi.org/10.1007/s004390050355

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