A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1 |
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| Authors: | Vuillaume Isabelle Devos David Schraen-Maschke Susanna Dina Christian Lemainque Arnaud Vasseur Francis Bocquillon Guy Devos Patrick Kocinski Carole Marzys Christiane Destée Alain Sablonnière Bernard |
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| Affiliation: | Unité Fonctionnelle de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, H?pital R. Salengro, Centre Hospitalier Régional et Universitaire, Boulevard du Professeur Leclerc, 59037 Lille Cedex, France. |
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| Abstract: | We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3-p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516. |
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