title: Transmission distortion of the mutant alleles in spinocerebellar ataxia.
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.
authors.affiliation: St. Josef Hospital, Ruhr University, Bochum, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: G
authors.initials: G
authors.lastname: Amoiridis
authors.forename: H
authors.initials: H
authors.lastname: Przuntek
authors.forename: L
authors.initials: L
authors.lastname: Schöls
mesh_terms: D017668:Age of Onset; D000483:Alleles; D005260:Female; D006579:Heterozygote; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics; D008297:Male; D009154:Mutation; D012727:Sex Characteristics; D013132:Spinocerebellar Degenerations / Q000235:genetics*