Article
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
Annals of neurology - 1 Nov 2002
Vuillaume Isabelle, Devos David, Schraen-Maschke Susanna, Dina Christian, Lemainque Arnaud, Vasseur Francis, Bocquillon Guy, Devos Patrick, Kocinski Carole, Marzys Christiane, Destée Alain, Sablonnière Bernard
Abstract excerpt
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...
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