Ataxia without telangiectasia masquerading as benign hereditary chorea
- 1 March 1996
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 11 (2) , 217-220
- https://doi.org/10.1002/mds.870110217
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.Keywords
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