Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder

Mov Disord. 2000 May;15(3):575-8. doi: 10.1002/1531-8257(200005)15:3<575::AID-MDS1023>3.0.CO;2-7.


Autosomal recessive posterior column ataxia and retinitis pigmentosa (PCARP) is a movement disorder that was genetically mapped to a disease locus (AXPC1) on chromosome 1q32-q31 in an inbred population of Dutch-German ancestry in the continental United States. We performed genetic linkage analysis and haplotype reconstruction on a different family from Spain with an identical phenotype to determine if the neurologic signs of an early-onset ataxia, retinitis pigmentosa, and a sensory neuropathy also mapped to the AXPC1 locus. The disease phenotype was linked in the candidate interval with a maximum lod score of 3.56 at a recombination fraction of 0.0 for locus D1S414. Haplotypes were discordant and suggested that the disease mutation arose independently from at least two populations. These results refine the classification of early-onset ataxia, abrogate a founder effect for this recessive disorder, and provide evidence that PCARP is a distinct, homogeneous, clinical, and genetic disorder.

MeSH terms

  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosome Mapping
  • Consanguinity
  • Female
  • Genes, Recessive / genetics
  • Genetic Linkage / genetics
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*