Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6

J Neuroophthalmol. 2008 Dec;28(4):287-8. doi: 10.1097/WNO.0b013e318183bf5a.

Abstract

The combination of periodic alternating nystagmus (PAN) and periodic alternating skew deviation (PASD) is rare. We report a case of PAN and PASD in a patient with spinocerebellar ataxia type 6 (SCA-6) and discuss the role of the cerebellum as a plausible mechanism for this combined pathologic condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium Channels / genetics
  • Calcium Channels, N-Type / genetics
  • Cerebellum / pathology
  • Cerebellum / physiopathology*
  • DNA Mutational Analysis
  • Genetic Markers / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Nystagmus, Pathologic / etiology*
  • Nystagmus, Pathologic / physiopathology*
  • Ocular Motility Disorders / etiology*
  • Ocular Motility Disorders / physiopathology*
  • Purkinje Cells / metabolism
  • Purkinje Cells / pathology
  • Reflex, Vestibulo-Ocular / genetics
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Calcium Channels, N-Type
  • Genetic Markers
  • voltage-dependent calcium channel (P-Q type)