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

Ann Neurol. 2002 Nov;52(5):666-70. doi: 10.1002/ana.10344.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 7* / genetics*
  • Extremities / physiopathology
  • Female
  • Gait
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Pedigree
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology