Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions

Ann Neurol. 2003 Dec;54(6):824-8. doi: 10.1002/ana.10758.

Abstract

We describe a family of Slovenian descent with progressive ataxia, corticospinal signs, axonal sensorimotor neuropathy, and disruption of visual fixation by saccadic intrusions. Chromosome mapping indicated a mutation on 1p36, and this recessive disorder has been designated spinocerebellar ataxia with saccadic intrusions. Affected patients showed overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades; other eye movements were normal. Slowed conduction in axons that are selectively vulnerable to the molecular defect could explain both the sensorimotor neuropathy and the saccadic disorder, which would be caused by delayed feedback control because of slow conduction in cerebellar parallel fibers.

Publication types

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

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 1 / genetics
  • Confidence Intervals
  • Female
  • Genes, Recessive*
  • Humans
  • Male
  • Middle Aged
  • Ocular Motility Disorders / complications
  • Ocular Motility Disorders / genetics*
  • Ocular Motility Disorders / pathology
  • Spinocerebellar Degenerations / complications
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / pathology