title: Ataxia without telangiectasia masquerading as benign hereditary chorea.
abstract: We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.
authors.affiliation: University Department of Neurology, National Hospital for Nervous Disorders, London, England, UK.
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: G K
authors.initials: GK
authors.lastname: Wenning
authors.forename: N P
authors.initials: NP
authors.lastname: Quinn
authors.forename: C D
authors.initials: CD
authors.lastname: Marsden
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008297:Male; D009460:Neurologic Examination; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics