Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

J Neurol. 2003 Jun;250(6):668-71. doi: 10.1007/s00415-003-1052-x.

Abstract

Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16*
  • Family Health*
  • Female
  • Genetic Linkage
  • Genotype
  • Germany / epidemiology
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sequence Analysis, DNA
  • Spinocerebellar Ataxias / epidemiology
  • Spinocerebellar Ataxias / genetics*
  • Trinucleotide Repeat Expansion*

Substances

  • RNA, Messenger