Article
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
Annals of neurology - 1 Jun 2007
Rasmussen Astrid, De Biase Irene, Fragoso-Benítez Marcela, Macías-Flores Marco Antonio, Yescas Petra, Ochoa Adriana, Ashizawa Tetsuo, Alonso María Elisa, Bidichandani Sanjay I
Abstract excerpt
Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the TBP gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted alleles, thus greatly increasing the number of known intergenerational transmissions of such alleles. We found that uninterrupted SCA17...
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