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. 1997 Sep;17(1):65-70.
doi: 10.1038/ng0997-65.

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

G David  1 , N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou, H Drabkin, R Gemmill, P Giunti, A Benomar, N Wood, M Ruberg, Y Agid, J L Mandel, A Brice
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

G David et al. Nat Genet. 1997 Sep.

Abstract

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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