Transmission distortion of the mutant alleles in spinocerebellar ataxia |
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| Authors: | Olaf Riess Jörg T Epplen Georgios Amoiridis Horst Przuntek L Schöls |
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| Institution: | (1) Human Molecular Genetics, St. Josef Hospital, Ruhr University, Bochum, Germany, DE;(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 |
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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.
Received: 9 September 1996 / Revised: 7 October 1996 |
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