Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

Ann Neurol. 1988 Oct;24(4):497-502. doi: 10.1002/ana.410240404.

Abstract

We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Apraxias / diagnosis*
  • Apraxias / physiopathology
  • Ataxia / diagnosis*
  • Ataxia / physiopathology
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / physiopathology
  • Child
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Syndrome