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Wiley, Annals of Neurology, 5(52), p. 666-670, 2002

DOI: 10.1002/ana.10344

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

This paper is available in a repository.
This paper is available in a repository.

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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.