Transmission distortion of the mutant alleles in spinocerebellar ataxia.
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.
Riess
O
O
St. Josef Hospital, Ruhr University, Bochum, Germany.
Epplen
J T
JT
Amoiridis
G
G
Przuntek
H
H
Schöls
L
L
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*