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Mov Disord. 1996 Mar;11(2):217-20.

Ataxia without telangiectasia masquerading as benign hereditary chorea.

Author information

1
University Department of Neurology, National Hospital for Nervous Disorders, London, England, UK.

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.

PMID:
8684395
DOI:
10.1002/mds.870110217
[Indexed for MEDLINE]

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