Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia-telangiectasia

✍ Scribed by Dr. Jean Aicardi; Célia Barbosa; Eva Andermann; Frederick Andermann; Rami Morcos; Qais Ghanem; Yukio Fukuyama; Yutaka Awaya; Paul Moe

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 588 KB
• Volume: 24
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.410240404

✦ Synopsis

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.