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

Centre National de Génotypage, Évry-Petit-Bourg, Île-de-France, France
Annals of Neurology (Impact Factor: 11.91). 12/2002; 52(5):666-70. DOI: 10.1002/ana.10344
Source: PubMed

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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Available from: Francis Vasseur, Dec 09, 2014
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