title: Ataxia telangiectasia presenting as an extrapyramidal movement disorder and ocular motor apraxia without overt telangiectasia.
abstract: Ataxia telangiectasia may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal movement disorder, ocular motor apraxia with head thrusting and cerebellar incoordination is characteristic. In this sporadic case there was no overt immune dysfunction, oculocutaneous telangiectasia were inconspicuous and the neurological presentation was atypical with dystonia predominating over cerebellar incoordination. The uncontrollable and disabling involuntary movements, which have not to our knowledge been described in ataxia telangiectasia before, showed a partial response to moderately large doses of benzhexol, but were refractory to all other medications. Treatment in the future is to be with increasing doses of benzhexol until the dystonia is controlled or larger doses cannot be tolerated.
authors.affiliation: Movement Disorders Clinic, Australian Neuromuscular Research Institute, Nedlands.
authors.forename: A
authors.initials: A
authors.lastname: Churchyard
authors.forename: R
authors.initials: R
authors.lastname: Stell
authors.forename: F L
authors.initials: FL
authors.lastname: Mastaglia
mesh_terms: D000328:Adult; D001072:Apraxias / Q000209:etiology*; D001260:Ataxia Telangiectasia / Q000150:complications / Q000175:diagnosis* / Q000276:immunology; D001480:Basal Ganglia Diseases / Q000209:etiology*; D002272:Carcinoembryonic Antigen / Q000097:blood; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D008297:Male; D015835:Ocular Motility Disorders / Q000209:etiology*; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D002272:Carcinoembryonic Antigen; D007136:Immunoglobulins; D000509:alpha-Fetoproteins