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A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Isabelle Vuillaume, David Devos, Susanna Schraen-Maschke, Christian Dina, Arnaud Lemainque, Francis Vasseur, Guy Bocquillon, Patrick Devos, Carole Kocinski, Christiane Marzys, Alain Destée, Bernard Sablonnière
Annals of Neurology 2002 November
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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