Article
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics - 1 Nov 1996
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J M, Weber C, Mandel J L, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A
Abstract excerpt
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA expression libraries, using an antibody specific for polyglutamine repeats, we identified six novel genes containing CAG stretches. One of them is mutated in patients with spinocerebellar ataxia linked to chromosome 12q (SCA2). This gene shows...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.