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Ann Neurol. 2002 Nov;52(5):666-70.

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

Author information

1
Unité Fonctionnelle de Neurobiologie, Laboratoire de Biochimie et Biologie moléculaire, Hôpital R. Salengro, Centre Hospitalier Régional et Universitaire, Boulevard du Professeur Leclerc, 59037 Lille Cedex, France.

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.

PMID:
12402269
DOI:
10.1002/ana.10344
[Indexed for MEDLINE]

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