title: Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
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.
authors.affiliation: INSERM Hôpital des Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Aicardi
authors.forename: C
authors.initials: C
authors.lastname: Barbosa
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: R
authors.initials: R
authors.lastname: Morcos
authors.forename: Q
authors.initials: Q
authors.lastname: Ghanem
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuyama
authors.forename: Y
authors.initials: Y
authors.lastname: Awaya
authors.forename: P
authors.initials: P
authors.lastname: Moe
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000175:diagnosis* / Q000503:physiopathology; D001259:Ataxia / Q000175:diagnosis* / Q000503:physiopathology; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D013577:Syndrome