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

• DOI: 10.1002/ana.10344
• Publication Date: 2002-10-28T14:33:34Z
• Authors: Isabelle Vuillaume; David Devos; Susanna Schraen‐M...; Christian Dina; Arnaud Lemainque; Francis Vasseur; Guy Bocquillon; Patrick Devos; Carole Kocinski; Christiane Marzys; Alain Destée; Bernard Sablonnière
• Keywords: Adult; Male; Adolescent; Genotype; Genetic Linkage; Chromosome Mapping; Extremities; Pedigree; 03 medical and health sciences; 0302 clinical medicine; Humans; Spinocerebellar Ataxias; Female; Child; Gait; Chromosomes, Human, Pair 7

AbstractWe 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.