A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
- 25 August 2002
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 52 (5) , 666-670
- https://doi.org/10.1002/ana.10344
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.Keywords
Funding Information
- University of Lille 2
- Centre Hospitalier Régional et Universitaire (Délégation à la Recherche)
- Centre National de Génotypage
- Association pour l'Etude et la Prévention des Maladies du Système Nerveux
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