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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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David, Gilles | Abbas, Nacer | Stevanin, Giovanni | Dürr, Alexandra | Yvert, Gaël | Cancel, Géraldine | Weber, Chantal | Imbert, Georges | Saudou, Frédéric | Antoniou, Eric | Drabkin, Harry | Gemmill, Robert | Giunti, Paola | Benomar, A | Wood, Nick | Ruberg, Merle | Agid, Yves | Mandel, Jean-Louis | Brice, Alexis

Edité par CCSD ; Nature Publishing Group -

The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.

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