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Journal of Neurology

, Volume 244, Issue 2, pp 105–111 | Cite as

Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1

  • Wolfgang Klostermann
  • Christine Zühlke
  • Wolfgang Heide
  • Detlef Kömpf
  • K. Wessel
Original communication

Abstract

In order to study the relation between genotype and phenotype, a detailed study of the course of oculomotor deficits was performed in three patients with autosomal-dominant cerebellar ataxia, subtype spinocerebellar atrophy type 1 (SCA 1) using clinical testing and electrooculography. DNA analysis revealed a CAG repeat expansion of 65 in the SCA 1 gene on chromosome 6p in all patients. A progressive disorder of the saccadic system became obvious, leading to a marked slowing of saccadic eye movements and loss of pathological and physiological nystagmus. An upward gaze palsy developed early, followed by horizontal and downward gaze palsy at a later state of the disease. Smooth pursuit eye movements were disturbed to a lesser extent; the vestibulo-ocular reflex was reduced. As an additional feature, severe loss of visual acuity developed due to progressive optic nerve atrophy. The oculomotor deficits can be explained by progressive damage to the brain stem rather than to the cerebellum. Each combination of oculomotor deficits with or without optic atrophy may occur irrespective of the gene locus of the disease, making a correlation between clinical signs and genetic findings difficult.

Key words Autosomal-dominant cerebellar ataxia Spinocerebellar atrophy type 1 Slow saccades Electro-oculography 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Wolfgang Klostermann
    • 1
  • Christine Zühlke
    • 2
  • Wolfgang Heide
    • 1
  • Detlef Kömpf
    • 1
  • K. Wessel
    • 1
  1. 1.Department of Neurology, Medical University, Ratzeburger Allee 160, D-23538 Lübeck, Germany Tel.: +49-451-500-2485, Fax: +49-451-500-2489DE
  2. 2.Institute of Human Genetics, Medical University, Lübeck, GermanyDE

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