An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

Neurology. 1997 Dec;49(6):1717-20. doi: 10.1212/wnl.49.6.1717.


We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Ataxia / physiopathology
  • Child
  • Female
  • Genes, Recessive*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neck
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology
  • Spinal Cord / pathology
  • Spinal Cord Diseases / diagnosis
  • Spinal Cord Diseases / genetics*
  • Spinal Cord Diseases / physiopathology