A new episodic ataxia syndrome with linkage to chromosome 19q13

Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749.

Abstract

Background: Multiple episodic ataxia phenotypes and genotypes have been described.

Objective: To describe a new episodic ataxia syndrome.

Design: Genomewide linkage analysis with dense single nucleotide polymorphism arrays.

Setting: University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results.

Results: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13.

Conclusion: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Ataxia / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Female
  • Genotype
  • Humans
  • Odds Ratio
  • Pedigree
  • Phenotype